NDDVD - Neurodegenerative Diseases Variation Database
NTRK1 (neurotrophic tyrosine kinase, receptor, type 1)
LOVD v.3.0 Build 29 [
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Curator:
Y Yang
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The variants shown are described using the
NM_001007792.1
NM_002529.3
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).
Template
: Template(s) used to detect the sequence variant; DNA = genomic DNA, RNA = RNA (cDNA).
All options:
DNA
RNA = RNA (cDNA)
Protein
? = unknown
Technique
: Technique(s) used to identify the sequence variant.
All options:
? = Unknown
arrayCGH = array for Comparative Genomic Hybridisation
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
CSCE = Conformation Sensitive Capillary Electrophoresis
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
ddF = dideoxy Fingerprinting
DSCA = Double-Strand DNA Conformation Analysis
EMC = Enzymatic Mismatch Cleavage
HD = HeteroDuplex analysis
MCA = high-resolution Melting Curve Analysis (hrMCA)
IHC = Immuno-Histo-Chemistry
MAPH = Multiplex Amplifiable Probe Hybridisation
MLPA = Multiplex Ligation-dependent Probe Amplification
SEQ-NG = Next-Generation Sequencing
SEQ-NG-H = Next-Generation Sequencing - Helicos
SEQ-NG-I = Next-Generation Sequencing - Illumina/Solexa
SEQ-NG-R = Next-Generation Sequencing - Roche/454
SEQ-NG-S = Next-Generation Sequencing - SOLiD
Northern = Northern blotting
PCR = Polymerase Chain Reaction
PCRdig = PCR + restriction enzyme digestion
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRq = PCR, quantitative
PAGE = Poly-Acrylamide Gel-Electrophoresis
PTT = Protein Truncation Test
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
RT-PCR = Reverse Transcription and PCR
SEQ = SEQuencing
SBE = Single Base Extension
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = SSCA, fluorescent (SSCP)
Southern = Southern blotting
TaqMan = TaqMan assay
Western = Western Blotting
Reference
: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.
Ethnic origin
: The ethnic origin of the individual; e.g. African, Caucasian, gypsy, jew (Ashkenazi).
Remarks
: Remarks about the individual.
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.
48 entries on 1 page. Showing entries 1 - 48.
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Legend
How to query
Effect
Exon
DNA change (cDNA)
RNA change
Protein
Variant/VariO/DNA
Variant/VariO/protein
Allele
DNA change (genomic) (hg19)
Reference
DB-ID
Frequency
Template
Technique
Disease
Reference
Ethnic origin
Remarks
Panel size
Owner
./.
2
c.107delA
r.(?)
p.(Asn36Thrfs*22)
VariO:0141 DNA deletion
VariO:0023 amphigoric amino acid indel
Unknown
g.156811970delA
Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999)
NTRK1_000003
-
?
?
HSAN
Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999)
-
-
1
Y Yang
./.
3
c.163C>T
r.(?)
p.(Arg55Cys)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
Unknown
g.156834186C>T
Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999)
NTRK1_000016
-
?
?
HSAN
Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999)
-
-
1
Y Yang
./.
3
c.188T>C
r.(?)
p.(Leu63Pro)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
Unknown
g.156834211T>C
Mardy S1, Miura Y, Endo F, Matsuda I, Indo Y.(2001)
NTRK1_000021
-
?
?
HSAN
Mardy S1, Miura Y, Endo F, Matsuda I, Indo Y.(2001)
-
-
1
Y Yang
./.
3i
c.198-1G>C
r.spl?
p.?
VariO:0136 DNA substitution; VariO:0316 transversion
-
Unknown
g.156834519G>C
Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999)
NTRK1_000040
-
?
?
HSAN
Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999)
-
-
1
Y Yang
./.
4i
c.269+1G>A
r.spl?
p.?
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
-
Unknown
g.156834592G>A
Bodzioch M1, Lapicka K, Aslanidis C, Kacinski M, Schmitz G.(2001)
NTRK1_000041
-
?
?
HSAN
Bodzioch M1, Lapicka K, Aslanidis C, Kacinski M, Schmitz G.(2001)
-
-
1
Y Yang
./.
5
c.301_302delTC
r.(?)
p.(Ser101Leufs*41)
VariO:0141 DNA deletion
VariO:0023 amphigoric amino acid indel
Unknown
g.156836733_156836734delTC
Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000)
NTRK1_000006
-
?
?
HSAN
Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000)
-
-
1
Y Yang
./.
6i
c.338+1G>C
r.spl?
p.?
VariO:0136 DNA substitution; VariO:0316 transversion
-
Unknown
g.156836771G>C
Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001)
NTRK1_000042
-
?
?
HSAN
Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001)
-
-
1
Y Yang
./.
6
c.400G>T
r.(?)
p.(Glu134*)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0015 protein truncation
Unknown
g.156837957G>T
Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000)
NTRK1_000023
-
?
?
HSAN
Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000)
-
-
1
Y Yang
./.
6
c.436C>T
r.(?)
p.(Gln146*)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0015 protein truncation
Unknown
g.156837993C>T
Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001)
NTRK1_000022
-
?
?
HSAN
Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001)
-
-
1
Y Yang
./.
7i
c.484+1G>A
r.spl?
p.?
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
-
Unknown
g.156838042G>A
Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999)
NTRK1_000043
-
?
?
HSAN
Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999)
-
-
1
Y Yang
./.
7
c.548T>C
r.(?)
p.(Leu183Pro)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
Unknown
g.156838360T>C
Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999)
NTRK1_000024
-
?
?
HSAN
Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999)
-
-
1
Y Yang
./.
7i
c.761-33T>A
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0316 transversion
-
Unknown
g.156843392T>A
Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000)
NTRK1_000039
-
?
?
HSAN
Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000)
-
-
1
Y Yang
./.
9i
c.761-1G>A
r.spl?
p.?
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
-
Unknown
g.156843424G>A
Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001)
NTRK1_000044
-
?
?
HSAN
Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001)
-
-
1
Y Yang
./.
9
c.834_840delGCCGGCA
r.(?)
p.(Gln278Hisfs*154)
VariO:0141 DNA deletion
VariO:0023 amphigoric amino acid indel
Unknown
g.156843498_156843504delGCCGGCA
Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999)
NTRK1_000002
-
?
?
HSAN
Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999)
-
-
1
Y Yang
./.
9
c.986A>G
r.(?)
p.(Tyr329Cys)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.156843650A>G
Houlden H1, King RH, Hashemi-Nejad A, Wood NW, Mathias CJ, Reilly M, Thomas PK.(2001)
NTRK1_000018
-
?
?
HSAN
Houlden H1, King RH, Hashemi-Nejad A, Wood NW, Mathias CJ, Reilly M, Thomas PK.(2001)
-
-
1
Y Yang
./.
9
c.987C>A
r.(?)
p.(Tyr329*)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0015 protein truncation
Unknown
g.156843651C>A
Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000)
NTRK1_000025
-
?
?
HSAN
Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000)
-
-
1
Y Yang
./.
9
c.1069_1076dup
r.(?)
p.(Ile361Argfs*76)
VariO:0142 DNA insertion
VariO:0023 amphigoric amino acid indel
Unknown
g.156843733_156843740dup
Davidson G1, Murphy S, Polke J, Laura M, Salih M, Muntoni F, Blake J, Brandner S, Davies N, Horvath R, Price S, Donaghy M, Roberts M, Foulds N, Ramdharry G, Soler D, Lunn M, Manji H, Davis M, Houlden H, Reilly M.(2012)
NTRK1_000037
-
?
?
HSAN
"
Davidson G1, Murphy S, Polke J, Laura M, Salih M, Muntoni F, Blake J, Brandner S, Davies N, Horvath R, Price S, Donaghy M, Roberts M, Foulds N, Ramdharry G, Soler D, Lunn M(2012)
-
-
1
Y Yang
./.
9
c.1072G>A
r.(?)
p.(Glu358Lys)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.156843736G>A
Wieczorek S1, Bergstr?m J, S??f M, K?tting J, Iwarsson E.(2008)
NTRK1_000036
-
?
?
HSAN
Wieczorek S1, Bergstr?m J, S??f M, K?tting J, Iwarsson E.(2008)
-
-
1
Y Yang
./.
13
c.1414_1415delCG
r.(?)
p.(Arg472Glyfs*20)
VariO:0141 DNA deletion
VariO:0023 amphigoric amino acid indel
Unknown
g.156845892_156845893delCG
Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001)
NTRK1_000009
-
?
?
HSAN
Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001)
-
-
1
Y Yang
./.
13
c.1422_1423insGGGACATC
r.(?)
p.(Val475Glyfs*39)
VariO:0142 DNA insertion
VariO:0023 amphigoric amino acid indel
Unknown
g.156845900_156845901insGGGACATC
Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001)
NTRK1_000010
-
?
?
HSAN
Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001)
-
-
1
Y Yang
./.
13
c.1456G>C
r.(?)
p.(Gly486Arg)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.156845934G>C
Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000)
NTRK1_000026
-
?
?
HSAN
Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000)
-
-
1
Y Yang
./.
13
c.1474G>A
r.(?)
p.(Glu492Lys)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.156845952G>A
Davidson G1, Murphy S, Polke J, Laura M, Salih M, Muntoni F, Blake J, Brandner S, Davies N, Horvath R, Price S, Donaghy M, Roberts M, Foulds N, Ramdharry G, Soler D, Lunn M, Manji H, Davis M, Houlden H, Reilly M.(2012)
NTRK1_000038
-
?
?
HSAN
"
Davidson G1, Murphy S, Polke J, Laura M, Salih M, Muntoni F, Blake J, Brandner S, Davies N, Horvath R, Price S, Donaghy M, Roberts M, Foulds N, Ramdharry G, Soler D, Lunn M(2012)
-
-
1
Y Yang
./.
14
c.1552delC
r.(?)
p.(Arg518Glyfs*104)
VariO:0141 DNA deletion
VariO:0023 amphigoric amino acid indel
Unknown
g.156846219delC
Indo Y1, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, Mitsubuchi H, Tonoki H, Awaya Y, Matsuda I.(1996)
NTRK1_000005
-
?
?
HSAN
Indo Y1, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, Mitsubuchi H, Tonoki H, Awaya Y, Matsuda I.(1996)
-
-
1
Y Yang
./.
14
c.1621G>C
r.(?)
p.(Gly541Arg)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.156846288G>C
Indo Y1, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, Mitsubuchi H, Tonoki H, Awaya Y, Matsuda I.(1996)
NTRK1_000012
-
?
?
HSAN
Indo Y1, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, Mitsubuchi H, Tonoki H, Awaya Y, Matsuda I.(1996)
-
-
1
Y Yang
./.
14
c.1621G>C
r.(?)
p.(Gly541Arg)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.156846288G>C
Indo Y1, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, Mitsubuchi H, Tonoki H, Awaya Y, Matsuda I.(1996)
NTRK1_000012
-
?
?
HSAN
Indo Y1, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, Mitsubuchi H, Tonoki H, Awaya Y, Matsuda I.(1996)
-
-
1
Y Yang
./.
14
c.1646delT
r.(?)
p.(Leu549Argfs*73)
VariO:0141 DNA deletion
VariO:0023 amphigoric amino acid indel
Unknown
g.156846313delT
Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000)
NTRK1_000007
-
?
?
HSAN
Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000)
-
-
1
Y Yang
./.
14
c.1651A>G
r.(?)
p.(Met551Val)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.156846318A>G
Yotsumoto S1, Setoyama M, Hozumi H, Mizoguchi S, Fukumaru S, Kobayashi K, Saheki T, Kanzaki T.(1999)
NTRK1_000019
-
?
?
HSAN
Yotsumoto S1, Setoyama M, Hozumi H, Mizoguchi S, Fukumaru S, Kobayashi K, Saheki T, Kanzaki T.(1999)
-
-
1
Y Yang
./.
15
c.1696C>T
r.(?)
p.(Arg566*)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0015 protein truncation
Unknown
g.156846363C>T
Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001)
NTRK1_000027
-
?
?
HSAN
Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001)
-
-
1
Y Yang
./.
15
c.1702C>T
r.(?)
p.(His568Tyr)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
Unknown
g.156848918C>T
Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999)
NTRK1_000014
-
?
?
HSAN
Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999)
-
-
1
Y Yang
./.
15
c.1730G>T
r.(?)
p.(Gly577Val)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.156848946G>T
Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999)
NTRK1_000015
-
?
?
HSAN
Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999)
-
-
1
Y Yang
./.
15
c.1735G>T
r.(?)
p.(Glu579*)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0015 protein truncation
Unknown
g.156848951G>T
Bodzioch M1, Lapicka K, Aslanidis C, Kacinski M, Schmitz G.(2001)
NTRK1_000001
-
?
?
HSAN
Bodzioch M1, Lapicka K, Aslanidis C, Kacinski M, Schmitz G.(2001)
-
-
1
Y Yang
./.
15
c.1735G>T
r.(?)
p.(Glu579*)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0015 protein truncation
Unknown
g.156848951G>T
Bodzioch M1, Lapicka K, Aslanidis C, Kacinski M, Schmitz G.(2001)
NTRK1_000001
-
?
?
HSAN
Bodzioch M1, Lapicka K, Aslanidis C, Kacinski M, Schmitz G.(2001)
-
-
1
Y Yang
./.
15
c.1741G>C
r.(?)
p.(Val581Leu)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.156848957G>C
Bodzioch M1, Lapicka K, Aslanidis C, Kacinski M, Schmitz G.(2001)
NTRK1_000020
-
?
?
HSAN
Bodzioch M1, Lapicka K, Aslanidis C, Kacinski M, Schmitz G.(2001)
-
-
1
Y Yang
./.
15
c.1741G>C
r.(?)
p.(Val581Leu)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.156848957G>C
Bodzioch M1, Lapicka K, Aslanidis C, Kacinski M, Schmitz G.(2001)
NTRK1_000020
-
?
?
HSAN
Bodzioch M1, Lapicka K, Aslanidis C, Kacinski M, Schmitz G.(2001)
-
-
1
Y Yang
./.
15
c.1752_1753insT
r.(?)
p.(Pro585Serfs*12)
VariO:0142 DNA insertion
VariO:0023 amphigoric amino acid indel
Unknown
g.156848968_156848969insT
Shatzky S1, Moses S, Levy J, Pinsk V, Hershkovitz E, Herzog L, Shorer Z, Luder A, Parvari R.(2000)
NTRK1_000004
-
?
?
HSAN
Shatzky S1, Moses S, Levy J, Pinsk V, Hershkovitz E, Herzog L, Shorer Z, Luder A, Parvari R.(2000)
-
-
1
Y Yang
./.
15
c.1837C>T
r.(?)
p.(Arg613Trp)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
Unknown
g.156849053C>T
Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999)
NTRK1_000028
-
?
?
HSAN
Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999)
-
-
1
Y Yang
./.
15
c.1852C>T
r.(?)
p.(Arg618Cys)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
Unknown
g.156849068C>T
Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001)
NTRK1_000029
-
?
?
HSAN
Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001)
-
-
1
Y Yang
./.
15
c.1912G>T
r.(?)
p.(Asp638Tyr)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.156849128G>T
Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001)
NTRK1_000030
-
?
?
HSAN
Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001)
-
-
1
Y Yang
./.
15
c.1915A>C
r.(?)
p.(Ile639Leu)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.156849131A>C
Shatzky S1, Moses S, Levy J, Pinsk V, Hershkovitz E, Herzog L, Shorer Z, Luder A, Parvari R.(2000)
NTRK1_000031
-
?
?
HSAN
Shatzky S1, Moses S, Levy J, Pinsk V, Hershkovitz E, Herzog L, Shorer Z, Luder A, Parvari R.(2000)
-
-
1
Y Yang
./.
16
c.1976C>T
r.(?)
p.(Pro659Leu)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
Unknown
g.156849828C>T
Shatzky S1, Moses S, Levy J, Pinsk V, Hershkovitz E, Herzog L, Shorer Z, Luder A, Parvari R.(2000)
NTRK1_000017
-
?
?
HSAN
Shatzky S1, Moses S, Levy J, Pinsk V, Hershkovitz E, Herzog L, Shorer Z, Luder A, Parvari R.(2000)
-
-
1
Y Yang
./.
16
c.2032G>A
r.(?)
p.(Gly678Ser)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.156849884G>A
Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999)
NTRK1_000032
-
?
?
HSAN
Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999)
-
-
1
Y Yang
./.
16
c.2036T>C
r.(?)
p.(Val679Ala)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
Unknown
g.156849888T>C
Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001)
NTRK1_000033
-
?
?
HSAN
Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001)
-
-
1
Y Yang
./.
17
c.2163C>A
r.(?)
p.(Tyr721*)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0015 protein truncation
Unknown
g.156851314C>A
Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001)
NTRK1_000034
-
?
?
HSAN
Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001)
-
-
1
Y Yang
./.
17
c.2173C>T
r.(?)
p.(Arg725Trp)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
Unknown
g.156851324C>T
Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001)
NTRK1_000035
-
?
?
HSAN
Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001)
-
-
1
Y Yang
./.
17
c.2190_2191insT
r.(?)
p.(Glu731*)
VariO:0142 DNA insertion
VariO:0015 protein truncation
Unknown
g.156851341_156851342insT
Mardy S1, Miura Y, Endo F, Matsuda I, Indo Y.(2001)
NTRK1_000011
-
?
?
HSAN
Mardy S1, Miura Y, Endo F, Matsuda I, Indo Y.(2001)
-
-
1
Y Yang
./.
17
c.2219_2220insT
r.(?)
p.(Val741Cysfs*91)
VariO:0142 DNA insertion
VariO:0023 amphigoric amino acid indel
Unknown
g.156851370_156851371insT
Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000)
NTRK1_000008
-
?
?
HSAN
Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000)
-
-
1
Y Yang
./.
17
c.2231G>C
r.(?)
p.(Arg744Pro)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.156851382G>C
Greco A, Villa R, Tubino B, Romano L, Penso D, Pierotti MA.(1999)
NTRK1_000013
-
?
?
HSAN
Greco A, Villa R, Tubino B, Romano L, Penso D, Pierotti MA.(1999)
-
-
1
Y Yang
./.
17
c.2231G>C
r.(?)
p.(Arg744Pro)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.156851382G>C
Greco A, Villa R, Tubino B, Romano L, Penso D, Pierotti MA.(1999)
NTRK1_000013
-
?
?
HSAN
Greco A, Villa R, Tubino B, Romano L, Penso D, Pierotti MA.(1999)
-
-
1
Y Yang
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