NDDVD - Neurodegenerative Diseases Variation Database
GFAP (glial fibrillary acidic protein)
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Curator:
Y Yang
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All variants in the GFAP gene
The variants shown are described using the NM_002055.4 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon
: Number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = border intron 8/exon 9.
DNA change (cDNA)
: Description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup.
RNA change
: Description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: Description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Variant/VariO/DNA
: VariO of DNA
Variant/VariO/protein
: VariO of protein
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
DNA change (genomic) (hg19)
: Description of variant at DNA level, based on the genomic DNA reference sequence (following HGVS recommendations).
g.12345678C>T
g.12345678_12345890del
g.12345678_12345890dup
Reference
: Reference to publication describing the variant, including links to OMIM (when available), PubMed or or other source, e.g. "den Dunnen ASHG2003 P2346".
DB-ID
: Database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro.
Frequency
: Frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested).
How to query this table
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
144 entries on 2 pages. Showing entries 1 - 100.
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Effect
Exon
DNA change (cDNA)
RNA change
Protein
Variant/VariO/DNA
Variant/VariO/protein
DNA change (genomic) (hg19)
Reference
DB-ID
Frequency
Owner
?/.
1
c.53G>T
r.(53g>u)
p.Gly18Val
-
-
g.42992802C>A
Carlos Casasnovas, Edgard Verdura, Valentina Vélez, et al.
GFAP_000096
-
XY Liu
?/.
4
c.176G>A
r.(716g>a)
p.Arg239His
-
-
g.42992679C>T
M Brenner, A B Johnson, O Boespflug-Tanguy, D Rodriguez, J E Goldman, A Messing
GFAP_000091
-
XY Liu
./.
1
c.187A>C
r.(?)
p.(Lys63Gln)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.42992668T>G
Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A, Weller RO, Messing A, van der Knaap MS, Brenner M.(2005)
GFAP_000076
-
Y Yang
./.
1
c.197G>A
r.(?)
p.(Arg66Gln)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.42992658C>T
Hida A, Ishiura H, Arai N, Fukuoka H, Hasuo K, Goto J, Uesaka Y, Tsuji S, Takeuchi S.(2012)
GFAP_000004
-
Y Yang
?/.
1
c.197G>A
r.(197g>a)
p.Arg66Gln
-
-
g.42992658C>T
Mu-Hui Fu, Yung-Yee Chang, Ni-Hsuan Lin, et al.
GFAP_000004
-
XY Liu
+?/.
1
c.205G>A
r.(205g>a)
p.(Glu69Lys)
-
-
g.42992650C>T
Florian Brackmann, Roland Coras, Karl Rössler, Cornelia Kraus, Oliver Rompel, Regina Trollmann
GFAP_000093
-
XY Liu
./.
1
c.208C>T
r.(?)
p.(Arg70Trp)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
g.42992647G>A
Salvi F, Aoki Y, Della Nave R, Vella A, Pastorelli F, Scaglione C, Matsubara Y, Mascalchi M.(2005)
GFAP_000075
-
Y Yang
./.
1
c.209G>A
r.(?)
p.(Arg70Gln)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.42992646C>T
Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R, Ceccherini I, Filocamo M.(2007)
GFAP_000074
-
Y Yang
./.
1
c.218T>A
r.(?)
p.(Met73Lys)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.42992637A>T
Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R, Ceccherini I, Filocamo M.(2007)
GFAP_000071
-
Y Yang
?/.
1
c.218T>A
r.(218u>a)
p.Met73Lys
-
-
g.42992637A>T
Katayoun Heshmatzad, Mahya Haghi Panah, Ali Reza Tavasoli, et al.
GFAP_000071
-
XY Liu
./.
1
c.218T>C
r.(?)
p.(Met73Thr)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
g.42992637A>G
Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A, Weller RO, Messing A, van der Knaap MS, Brenner M.(2005)
GFAP_000072
-
Y Yang
./.
1
c.218T>G
r.(?)
p.(Met73Arg)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.42992637A>C
Gorospe JR1, Naidu S, Johnson AB, Puri V, Raymond GV, Jenkins SD, Pedersen RC, Lewis D, Knowles P, Fernandez R, De Vivo D, van der Knaap MS, Messing A, Brenner M, Hoffman EP.(2002)
GFAP_000073
-
Y Yang
?/.
1
c.219G>A
r.(219g>a)
p.Met73Ile
-
-
g.42992636C>T
Saar Anis, Tsvia Fay-Karmon, Simon Lassman, et al.
GFAP_000108
-
XY Liu
?/.
1
c.219G>T
r.(219g>u)
p.(Met73Ile)
-
-
g.42992636C>A
Eri Hayano, Mikito Shimizu, Kousuke Baba, et al.
GFAP_000099
-
XY Liu
./.
1
c.221T>C
r.(?)
p.(Met74Thr)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
g.42992634A>G
Ohnari K1, Yamano M, Uozumi T, Hashimoto T, Tsuji S, Nakagawa M.(2007)
GFAP_000070
-
Y Yang
./.
1
c.226C>G
r.(?)
p.(Leu76Val)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.42992629G>C
Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A, Weller RO, Messing A, van der Knaap MS, Brenner M.(2005)
GFAP_000068
-
Y Yang
./.
1
c.226C>T
r.(?)
p.(Leu76Phe)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
g.42992629G>A
Rodriguez D1, Gauthier F, Bertini E, Bugiani M, Brenner M, N'guyen S, Goizet C, Gelot A, Surtees R, Pedespan JM, Hernandorena X, Troncoso M, Uziel G, Messing A, Ponsot G, Pham-Dinh D, Dautigny A, Boespflug-Tanguy O.(2001)
GFAP_000069
-
Y Yang
./.
1
c.229A>T
r.(?)
p.(Asn77Tyr)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.42992626T>A
Rodriguez D1, Gauthier F, Bertini E, Bugiani M, Brenner M, N'guyen S, Goizet C, Gelot A, Surtees R, Pedespan JM, Hernandorena X, Troncoso M, Uziel G, Messing A, Ponsot G, Pham-Dinh D, Dautigny A, Boespflug-Tanguy O.(2001)
GFAP_000067
-
Y Yang
./.
1
c.230A>G
r.(?)
p.(Asn77Ser)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.42992625T>C
Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A, Weller RO, Messing A, van der Knaap MS, Brenner M.(2005)
GFAP_000066
-
Y Yang
./.
1
c.232G>A
r.(?)
p.(Asp78Asn)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.42992623C>T
Wada Y1, Yanagihara C, Nishimura Y, Namekawa M.(2013)
GFAP_000007
-
Y Yang
./.
1
c.232G>A
r.(?)
p.(Asp78Asn)
-
-
g.42992623C>T
Tonduti D et al. (2016)
GFAP_000007
-
XY Liu
./.
1
c.234C>A
r.(?)
p.(Asp78Glu)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.42992621G>T
Stumpf E1, Masson H, Duquette A, Berthelet F, McNabb J, Lortie A, Lesage J, Montplaisir J, Brais B, Cossette P.(2003)
GFAP_000065
-
Y Yang
./.
1
c.234C>A
r.(?)
p.(Asp78Glu)
-
-
g.42992621G>T
Tonduti D et al. (2016)
GFAP_000065
-
XY Liu
?/.
1
c.(235C>T)
r.(235c>u)
p.Arg79Cys
-
-
g.42992620G>A
Cyril Mignot, Isabelle Desguerre, Lydie Burglen, et al.
GFAP_000064
-
XY Liu
?/.
1
c.(235C>T)
r.(235c>u)
p.Arg79Cys
-
-
g.42992620G>A
Roberta Biancheri, Andrea Rossi, Isabella Ceccherini, et al.
GFAP_000064
-
XY Liu
./.
1
c.235C>G
r.(?)
p.(Arg79Gly)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.42992620G>C
Gorospe JR1, Naidu S, Johnson AB, Puri V, Raymond GV, Jenkins SD, Pedersen RC, Lewis D, Knowles P, Fernandez R, De Vivo D, van der Knaap MS, Messing A, Brenner M, Hoffman EP.(2002)
GFAP_000063
-
Y Yang
./.
1
c.235C>T
r.(?)
p.(Arg79Cys)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
g.42992620G>A
Ma HW1, Lu JF, Jiang J, Chen LY, Niu GH, Wu BM, Kanazawa N, Tsujino S.(2005)
GFAP_000064
-
Y Yang
?/.
1
c.235C>T
r.(235c>u)
p.Arg79Cys
-
-
g.42992620G>A
M Brenner, A B Johnson, O Boespflug-Tanguy, D Rodriguez, J E Goldman, A Messing
GFAP_000064
-
XY Liu
?/.
1
c.235C>T
r.(235c>u)
p.Arg79Cys
-
-
g.42992620G>A
Naohide Shiroma, Naomi Kanazawa, Zenichiro Kato, et al.
GFAP_000064
-
XY Liu
?/.
1
c.(236G>A)
r.(236g>a)
p.Arg79His
-
-
g.42992619C>T
Naoko Asahina, Takayuki Okamoto, Akira Sudo, Naomi Kanazawa, Seiichi Tsujino, Shinji Saitoh
GFAP_000009
-
XY Liu
?/.
1
c.(236G>A)
r.(236g>a)
p.Arg79His
-
-
g.42992619C>T
Maria Teresa Dotti, Rosaria Buccoliero, Andrew Lee, J Raphael Gorospe, et al.
GFAP_000009
-
XY Liu
?/.
1
c.(236G>T)
r.(236g>u)
p.Arg79Leu
-
-
g.42992619C>A
Naohide Shiroma, Naomi Kanazawa, Zenichiro Kato, et al.
GFAP_000061
-
XY Liu
?/.
1
c.236G>A
r.(?)
p.Arg79His
-
-
g.42992619C>A
Meins M1, Brockmann K, Yadav S, Haupt M, Sperner J, Stephani U, Hanefeld F.(2002)
GFAP_000061
-
Y Yang
./.
1
c.236G>A
r.(?)
p.(Arg79His)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.42992619C>T
Ashrafi MR1, Tavasoli A2, Aryani O3, Alizadeh H4, Houshmand M5.(2013)
GFAP_000009
-
Y Yang
?/.
1
c.236G>A
r.(236g>a)
p.Arg79His
-
-
g.42992619C>T
M Brenner, A B Johnson, O Boespflug-Tanguy, D Rodriguez, J E Goldman, A Messing
GFAP_000009
-
XY Liu
?/.
1
c.236G>A
r.(236g>a)
p.Arg79His
-
-
g.42992619C>T
Yumi Matsuyama, Marie Satake, Ryotaro Kamei, Tomokatsu Yoshida
GFAP_000009
-
XY Liu
./.
1
c.236G>C
r.(?)
p.(Arg79Pro)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.42992619C>G
Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R, Ceccherini I, Filocamo M.(2007)
GFAP_000062
-
Y Yang
?/.
1
c.239T>C
r.(239u>c)
p.(Phe80Ser)
-
-
g.42992616A>G
Ayumi Matsumoto, Janyerkye Tulyeu, Rieko Furukawa, et al.
GFAP_000094
-
XY Liu
./.
1
c.247T>C
r.(?)
p.(Tyr83His)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
g.42992608A>G
Ye Wu1, Qiang Gu, Jingmin Wang, Yanling Yang, Xiru Wu, Yuwu Jiang.(2008)
GFAP_000060
-
Y Yang
./.
1
c.256_259delinsGAGT
r.(?)
p.(Lys86_Val87delinsGluPhe)
VariO:0143 DNA indel
VariO:0029 sequence retaining amino acid indel
g.42992596_42992599delinsACTC
Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R, Ceccherini I, Filocamo M.(2007)
GFAP_000059
-
Y Yang
?/.
1
c.259G>A
r.(259g>a)
p.Val87Ile
-
-
g.42992596C>T
Katayoun Heshmatzad, Mahya Haghi Panah, Ali Reza Tavasoli, et al.
GFAP_000100
-
XY Liu
./.
1
c.259G>C
r.(?)
p.(Val87Leu)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.42992596C>G
Suzuki H1, Yoshida T, Kitada M, Ichihashi J, Sasayama H, Nishikawa Y, Mistui Y, Nakagawa M, Kusunoki S.(2012)
GFAP_000002
-
Y Yang
?/.
1
c.(262C>T)
r.(262c>u)
p.Arg88Cys
-
-
g.42992593G>A
Y Nobuhara, K Nakahara, I Higuchi, T Yoshida, et al.
GFAP_000057
-
XY Liu
?/.
1
c.(262C>T)
r.(262c>u)
p.Arg88Cys
-
-
g.42992593G>A
Ye Wu, Qiang Gu, Jingmin Wang, Yanling Yang, Xiru Wu, Yuwu Jiang
GFAP_000057
-
XY Liu
./.
1
c.262C>A
r.(?)
p.(Arg88Ser)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.42992593G>T
Rodriguez D1, Gauthier F, Bertini E, Bugiani M, Brenner M, N'guyen S, Goizet C, Gelot A, Surtees R, Pedespan JM, Hernandorena X, Troncoso M, Uziel G, Messing A, Ponsot G, Pham-Dinh D, Dautigny A, Boespflug-Tanguy O.(2001)
GFAP_000056
-
Y Yang
./.
1
c.262C>T
r.(?)
p.(Arg88Cys)
-
-
g.42992593G>A
Tonduti D et al. (2016)
GFAP_000057
-
XY Liu
?/.
1
c.262C>T
r.(262c>u)
p.Arg88Cys
-
-
g.42992593G>A
Safoura Zardadi, Ehsan Razmara, Maryam Rasoulinezhad, et al.
GFAP_000057
-
XY Liu
./.
1
c.269T>C
r.(?)
p.(Leu90Pro)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
g.42992586A>G
Suzuki Y1, Kanazawa N, Takenaka J, Okumura A, Negoro T, Tsujino S.(2004)
GFAP_000055
-
Y Yang
./.
1
c.278A>C
r.(?)
p.(Gln93Pro)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.42992577T>G
Kyllerman M1, Rosengren L, Wiklund LM, Holmberg E.(2005)
GFAP_000054
-
Y Yang
./.
1
c.290T>C
r.(?)
p.(Leu97Pro)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
g.42992565A>G
Meins M1, Brockmann K, Yadav S, Haupt M, Sperner J, Stephani U, Hanefeld F.(2002)
GFAP_000053
-
Y Yang
./.
1
c.302T>C
r.(?)
p.(Leu101Pro)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
g.42992553A>G
Kaneko H, Hirose M, Katada S, Takahashi T, Naruse S, Tsuchiya M, Yoshida T, Nakagawa M, Onodera O, Nishizawa M, Ikeuchi T.(2009)
GFAP_000052
-
Y Yang
?/.
4
c.343G>A
r.(343g>a)
p.Val115Ile
-
-
g.42992512C>T
Katayoun Heshmatzad, Mahya Haghi Panah, Ali Reza Tavasoli, et al.
GFAP_000101
-
XY Liu
./.
1
c.376_381dup
r.(?)
p.(Arg126_Leu127dup)
VariO:0142 DNA insertion
VariO:0020 sequence retaining amino acid insertion
g.42992474_42992479dup
Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R, Ceccherini I, Filocamo M.(2007)
GFAP_000083
-
Y Yang
./.
1
c.382G>A
r.(?)
p.(Asp128Asn)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.42992473C>T
Farina L1, Pareyson D, Minati L, Ceccherini I, Chiapparini L, Romano S, Gambaro P, Fancellu R, Savoiardo M.(2008)
GFAP_000051
-
Y Yang
./.
1
c.382G>A
r.(?)
p.(Asp128Asn)
-
-
g.42992473C>T
Chang KE et al. (2015)
GFAP_000051
-
XY Liu
?/.
1
c.382G>A
r.(382g>a)
p.Asp128Asn
-
-
g.42992473C>T
Juan José Cabrera-Galván, María Soledad Martínez-Martin, Daniel Déniz-García, Eduardo Araujo-Ruano, María Del Mar Travieso-Aja
GFAP_000051
-
XY Liu
?/.
1
c.412_444del
r.(?)
p.Glu138_Leu148del
-
-
g.42992411_42992443del
You-Ri Kang, So-Hyun Lee, Ni-Hsuan Lin, et al.
GFAP_000107
-
XY Liu
./.
2
c.469G>A
r.(?)
p.(Asp157Asn)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.42991449C>T
Pareyson D1, Fancellu R, Mariotti C, Romano S, Salmaggi A, Carella F, Girotti F, Gattellaro G, Carriero MR, Farina L, Ceccherini I, Savoiardo M.(2008)
GFAP_000050
-
Y Yang
./.
2i
c.523-76G>C
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0316 transversion
-
g.42991267C>G
Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R, Ceccherini I, Filocamo M.(2007)
GFAP_000081
-
Y Yang
?/.
3
c.611A>G
r.(611a>g)
p.His204Arg
-
-
g.42991103T>C
D Vázquez-Justes, J Peñalva-García, R López, R Mitjana, R Begue, C González-Mingot
GFAP_000098
-
XY Liu
./.
3
c.613G>A
r.(?)
p.(Glu205Lys)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.42991101C>T
Farina L1, Pareyson D, Minati L, Ceccherini I, Chiapparini L, Romano S, Gambaro P, Fancellu R, Savoiardo M.(2008)
GFAP_000049
-
Y Yang
./.
3i
c.619-12C>T
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
-
g.42990810G>A
Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R, Ceccherini I, Filocamo M.(2007)
GFAP_000080
-
Y Yang
./.
4
c.619G>A
r.(?)
p.(Glu207Lys)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.42990798C>T
Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A, Weller RO, Messing A, van der Knaap MS, Brenner M.(2005)
GFAP_000048
-
Y Yang
./.
4
c.619G>C
r.(?)
p.(Glu207Gln)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.42990798C>G
Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A, Weller RO, Messing A, van der Knaap MS, Brenner M.(2005)
GFAP_000047
-
Y Yang
./.
4
c.628G>A
r.(?)
p.(Glu210Lys)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.42990789C>T
Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A, Weller RO, Messing A, van der Knaap MS, Brenner M.(2005)
GFAP_000046
-
Y Yang
?/.
4
c.(667G>C)
r.(667g>c)
p.Glu223Gln
-
-
g.42990750C>G
Maria Teresa Dotti, Rosaria Buccoliero, Andrew Lee, J Raphael Gorospe, et al.
GFAP_000045
-
XY Liu
./.
4
c.667G>C
r.(?)
p.(Glu223Gln)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.42990750C>G
Brockmann K1, Meins M, Taubert A, Trappe R, Grond M, Hanefeld F.(2003)
GFAP_000045
-
Y Yang
./.
4
c.692T>A
r.(?)
p.(Leu231His)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.42990725A>T
Delnooz CC, Schelhaas JH, van de Warrenburg BP, de Graaf RJ, Salomons GS.(2008)
GFAP_000044
-
Y Yang
./.
4
c.704T>C
r.(?)
p.(Leu235Pro)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
g.42990713A>G
Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A, Weller RO, Messing A, van der Knaap MS, Brenner M.(2005)
GFAP_000043
-
Y Yang
?/.
4
c.(715C>T)
r.(715c>u)
p.Arg239Cys
-
-
g.42990702G>A
Megumi Tsuji, Mio Tanaka, Yukichi Tanaka, et al.
GFAP_000005
-
XY Liu
?/.
4
c.715C>T
r.(715c>u)
p.Arg239Cys
-
-
g.42990702G>A
M Brenner, A B Johnson, O Boespflug-Tanguy, D Rodriguez, J E Goldman, A Messing
GFAP_000005
-
XY Liu
?/.
4
c.715C>T
r.(715c>u)
p.Arg239Cys
-
-
g.42990702G>A
Naohide Shiroma, Naomi Kanazawa, Zenichiro Kato, et al.
GFAP_000005
-
XY Liu
?/.
4
c.715C>T
r.(715c>u)
p.Arg239Cys
-
-
g.42990702G>A
Katayoun Heshmatzad, Mahya Haghi Panah, Ali Reza Tavasoli, et al.
GFAP_000005
-
XY Liu
?/.
4
c.(716G>A)
r.(716g>a)
p.Arg239His
-
-
g.42990701C>T
Takafumi Sakakibara, Yukihiro Takahashi, Kazuyoshi Fukuda, et al.
GFAP_000008
-
XY Liu
?/.
4
c.(716G>T)
r.(716g>u)
p.Arg239Leu
-
-
g.42990701C>A
Jung Mu Lee, Ae Suk Kim, Sun Ju Lee, et al.
GFAP_000001
-
XY Liu
./.
4
c.716G>A
r.(?)
p.(Arg239His)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.42990701C>T
Tanaka K1, Lee HU, Ikenaka K.(2007)
GFAP_000008
-
Y Yang
./.
4
c.716G>A
r.(?)
p.(Arg239His)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.42990701C>T
Ashrafi MR1, Tavasoli A2, Aryani O3, Alizadeh H4, Houshmand M5.(2013)
GFAP_000008
-
Y Yang
./.
4
c.716G>C
r.(?)
p.(Arg239Pro)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.42990701C>G
Meins M1, Brockmann K, Yadav S, Haupt M, Sperner J, Stephani U, Hanefeld F.(2002)
GFAP_000042
-
Y Yang
./.
4
c.716G>T
r.(?)
p.(Arg239Leu)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.42990701C>A
Shiihara T1, Yoneda T, Mizuta I, Yoshida T, Nakagawa M, Shimizu N.(2011)
GFAP_000001
-
Y Yang
./.
4
c.716G>T
r.(?)
p.(Arg239Leu)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.42990701C>A
Shiihara T1, Yoneda T, Mizuta I, Yoshida T, Nakagawa M, Shimizu N.(2011)
GFAP_000001
-
Y Yang
./.
4
c.724T>G
r.(?)
p.(Tyr242Asp)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.42990693A>C
Gorospe JR1, Naidu S, Johnson AB, Puri V, Raymond GV, Jenkins SD, Pedersen RC, Lewis D, Knowles P, Fernandez R, De Vivo D, van der Knaap MS, Messing A, Brenner M, Hoffman EP.(2002)
GFAP_000041
-
Y Yang
./.
4
c.731C>T
r.(?)
p.(Ala244Val)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
g.42990686G>A
Aoki Y1, Haginoya K, Munakata M, Yokoyama H, Nishio T, Togashi N, Ito T, Suzuki Y, Kure S, Iinuma K, Brenner M, Matsubara Y.(2001)
GFAP_000040
-
Y Yang
?/.
4
c.(739T>C)
r.(739u>c)
p.Ser247Pro
-
-
g.42990678A>G
Albee Messing, Rong Li, Sakkubai Naidu, J Paul Taylor, et al.
GFAP_000087
-
XY Liu
./.
4
c.758C>G
r.(?)
p.(Ala253Gly)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.42990659G>C
Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A, Weller RO, Messing A, van der Knaap MS, Brenner M.(2005)
GFAP_000039
-
Y Yang
./.
4
c.770A>G
r.(?)
p.(Tyr257Cys)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.42990647T>C
Howard KL1, Hall DA, Moon M, Agarwal P, Newman E, Brenner M.(2008)
GFAP_000038
-
Y Yang
./.
4
c.772C>T
r.(?)
p.(Arg258Cys)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
g.42990645G>A
Van Poppel K1, Broniscer A, Patay Z, Morris EB.(2009)
GFAP_000037
-
Y Yang
?/.
4
c.773G>C
r.(?)
p.Arg258Pro
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.42990644C>G
Brenner M1, Johnson AB, Boespflug-Tanguy O, Rodriguez D, Goldman JE, Messing A.(2001)
GFAP_000036
-
Y Yang
./.
5
c.799G>C
r.(?)
p.(Ala267Pro)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.42989147C>G
Hinttala R, Karttunen V, Karttunen A, Herva R, Uusimaa J, Remes AM.(2007)
GFAP_000035
-
Y Yang
./.
5
c.809G>C
r.(?)
p.(Arg270Pro)
-
-
g.42989137C>G
de Paiva AR et al. (2016)
GFAP_000090
-
XY Liu
./.
5
c.827G>T
r.(?)
p.(Arg276Leu)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.42989119C>A
Namekawa M1, Takiyama Y, Honda J, Shimazaki H, Sakoe K, Nakano I.(2010)
GFAP_000003
-
Y Yang
./.
5
c.827G>T
r.(?)
p.(Arg276Leu)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.42989119C>A
Namekawa M1, Takiyama Y, Honda J, Sakoe K, Naoi T, Shimazaki H, Yamagata T, Momoi MY, Nakano I.(2012)
GFAP_000003
-
Y Yang
?/.
5
c.827G>T
r.(827g>u)
p.Arg276Leu
-
-
g.42989119C>A
Michito Namekawa, Yoshihisa Takiyama, Yoko Aoki, et al.
GFAP_000003
-
XY Liu
./.
5
c.835A>G
r.(?)
p.(Lys279Glu)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.42989111T>C
Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A, Weller RO, Messing A, van der Knaap MS, Brenner M.(2005)
GFAP_000034
-
Y Yang
./.
5
c.883G>A
r.(?)
p.(Asp295Asn)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.42989063C>T
Isaacs A1, Baker M, Wavrant-De Vrièze F, Hutton M.(1998)
GFAP_000085
-
Y Yang
./.
5
c.883G>A
r.(?)
p.(Asp295Asn)
-
-
g.42989063C>T
Tonduti D et al. (2016)
GFAP_000085
-
XY Liu
./.
5i
c.906+81A>G
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
-
g.42988959T>C
Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R, Ceccherini I, Filocamo M.(2007)
GFAP_000079
-
Y Yang
./.
5i
c.907-100A>C
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0316 transversion
-
g.42988924T>G
Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R, Ceccherini I, Filocamo M.(2007)
GFAP_000078
-
Y Yang
./.
6
c.934G>A
r.(?)
p.(Glu312Lys)
-
-
g.42988797C>T
Bonthius DJ et al. (2016)
GFAP_000089
-
XY Liu
./.
6
c.934G>T
r.(?)
p.(Glu312*)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0015 protein truncation
g.42988797C>A
Brenner M, Messing A.(2014)
GFAP_000010
-
Y Yang
./.
6
c.934G>T
r.(?)
p.(Glu312*)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0015 protein truncation
g.42988797C>A
Nam TS1, Kim JH2, Chang CH3, Yoon W4, Jung YS5, Kang SY6, Shin BA7, Perng MD3, Choi SY8, Kim MK1.(2015)
GFAP_000010
-
Y Yang
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