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.
Reported: The number of times this variant has been reported in the database.
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
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).
Effect
|
Reported
|
Exon
|
DNA change (cDNA)
|
RNA change
|
Protein
|
Variant/VariO/DNA
|
Variant/VariO/protein
|
DNA change (genomic) (hg19)
|
Reference
|
DB-ID
|
Frequency
|
Owner
|
./. |
1 |
2 |
c.90C>G |
r.(?) |
p.(Ile30Met) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.161277192G>C |
Nelis E1, Timmerman V, De Jonghe P, Muylle L, Martin JJ, Van Broeckhoven C.(1994) |
MPZ_000005 |
- |
Y Yang |
./. |
1 |
2 |
c.103G>A |
r.(?) |
p.(Asp35Asn) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.161277179C>T |
1 more item |
MPZ_000019 |
- |
Y Yang |
./. |
1 |
2 |
c.116A>C |
r.(?) |
p.(His39Pro) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.161277166T>G |
Kilfoyle DH1, Dyck PJ, Wu Y, Litchy WJ, Klein DM, Dyck PJ, Kumar N, Cunningham JM, Klein CJ.(2006) |
MPZ_000002 |
- |
Y Yang |
./. |
1 |
2 |
c.131C>T |
r.(?) |
p.(Ser44Phe) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0021 amino acid substitution |
g.161277151G>A |
Marrosu MG1, Vaccargiu S, Marrosu G, Vannelli A, Cianchetti C, Muntoni F.(1998) |
MPZ_000021 |
- |
Y Yang |
./. |
1 |
2 |
c.136G>A |
r.(?) |
p.(Val46Met) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.161277146C>T |
Brozková D1, Mazanec R, Haberlová J, Sakmaryová I, Seeman P.(2010) |
MPZ_000001 |
- |
Y Yang |
./. |
1 |
2 |
c.143T>A |
r.(?) |
p.(Leu48Gln) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.161277139A>T |
Brozková D1, Mazanec R, Haberlová J, Sakmaryová I, Seeman P.(2010) |
MPZ_000037 |
- |
Y Yang |
./. |
1 |
2 |
c.146A>T |
r.(?) |
p.(His49Leu) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.161277136T>A |
Fabrizi GM1, Taioli F, Cavallaro T, Rigatelli F, Simonati A, Mariani G, Perrone P, Rizzuto N.(2000) |
MPZ_000023 |
- |
Y Yang |
./. |
1 |
2 |
c.178G>C |
r.(?) |
p.(Asp60His) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.161277104C>G |
Auer-Grumbach M1, Strasser-Fuchs S, Robl T, Windpassinger C, Wagner K.(2003) |
MPZ_000026 |
- |
Y Yang |
./. |
1 |
2 |
c.184A>T |
r.(?) |
p.(Ile62Phe) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.161277098T>A |
1 more item |
MPZ_000024 |
- |
Y Yang |
./. |
1 |
2 |
c.186C>G |
r.(?) |
p.(Ile62Met) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.161277096G>C |
Auer-Grumbach M1, Strasser-Fuchs S, Robl T, Windpassinger C, Wagner K.(2003) |
MPZ_000027 |
- |
Y Yang |
./. |
1 |
2 |
c.188C>G |
r.(?) |
p.(Ser63Cys) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.161277094G>C |
1 more item |
MPZ_000032 |
- |
Y Yang |
./. |
1 |
2 |
c.188C>T |
r.(?) |
p.(Ser63Phe) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0021 amino acid substitution |
g.161277094G>A |
1 more item |
MPZ_000013 |
- |
Y Yang |
./. |
1 |
3 |
c.190_192delTTC |
r.(?) |
p.(Phe64del) |
VariO:0141 DNA deletion |
VariO:0016 sequence retaining amino acid deletion |
g.161277090_161277092delGAA |
Ikegami T1, Nicholson G, Ikeda H, Ishida A, Johnston H, Wise G, Ouvrier R, Hayasaka K.(1996) |
MPZ_000047 |
- |
Y Yang |
./. |
1 |
2 |
c.194C>A |
r.(?) |
p.(Thr65Asn) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.161277088G>T |
Brozková D1, Mazanec R, Haberlová J, Sakmaryová I, Seeman P.(2010) |
MPZ_000038 |
- |
Y Yang |
./. |
1 |
3 |
c.224A>T |
r.(?) |
p.(Asp75Val) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.161277058T>A |
1 more item |
MPZ_000020 |
- |
Y Yang |
./. |
1 |
3 |
c.242A>G |
r.(?) |
p.(His81Arg) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.161276704T>C |
Sorour E1, MacMillan J, Upadhyaya M.(1997) |
MPZ_000014 |
- |
Y Yang |
./. |
1 |
3 |
c.245A>G |
r.(?) |
p.(Tyr82Cys) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.161276701T>C |
Nelis E1, Timmerman V, De Jonghe P, Muylle L, Martin JJ, Van Broeckhoven C.(1994) |
MPZ_000004 |
- |
Y Yang |
./. |
1 |
3 |
c.260C>A |
r.(?) |
p.(Pro87His) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.161276686G>T |
Warner LE1, Shohat M, Shorer Z, Lupski JR.(1997) |
MPZ_000035 |
- |
Y Yang |
./. |
1 |
3 |
c.266T>A |
r.(?) |
p.(Ile89Asn) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.161276680A>T |
1 more item |
MPZ_000016 |
- |
Y Yang |
./. |
2 |
3 |
c.270C>A |
r.(?) |
p.(Asp90Glu) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.161276676G>T |
Lupo V et al. (2015), 1 more item |
MPZ_000007 |
- |
Y Yang, XY Liu |
./. |
1 |
3 |
c.274G>A |
r.(?) |
p.(Val92Met) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.161276672C>T |
1 more item |
MPZ_000017 |
- |
Y Yang |
./. |
1 |
3 |
c.286A>G |
r.(?) |
p.(Lys96Glu) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.161276660T>C |
1 more item |
MPZ_000006 |
- |
Y Yang |
./. |
1 |
3 |
c.289_292delGAGC |
r.(?) |
p.(Glu97Alafs*5) |
VariO:0141 DNA deletion |
VariO:0023 amphigoric amino acid indel |
g.161276654_161276657delGCTC |
Brozková D1, Mazanec R, Haberlová J, Sakmaryová I, Seeman P.(2010) |
MPZ_000045 |
- |
Y Yang |
./. |
1 |
3 |
c.290A>T |
r.(?) |
p.(Glu97Val) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.161276656T>A |
Seeman P1, Mazanec R, Huehne K, Suslíková P, Keller O, Rautenstrauss B.(2004) |
MPZ_000028 |
- |
Y Yang |
./. |
1 |
3 |
c.292C>T |
r.(?) |
p.(Arg98Cys) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0021 amino acid substitution |
g.161276654G>A |
Rouger H, LeGuern E, Gouider R, Tardieu S, Birouk N, Gugenheim M, Bouche P, Agid Y, Brice A.(1996) |
MPZ_000011 |
- |
Y Yang |
./. |
1 |
3 |
c.293G>A |
r.(?) |
p.(Arg98His) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.161276653C>T |
Rouger H, LeGuern E, Gouider R, Tardieu S, Birouk N, Gugenheim M, Bouche P, Agid Y, Brice A.(1996) |
MPZ_000012 |
- |
Y Yang |
./. |
1 |
3 |
c.293G>C |
r.(?) |
p.(Arg98Pro) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.161276653C>G |
Rouger H, LeGuern E, Gouider R, Tardieu S, Birouk N, Gugenheim M, Bouche P, Agid Y, Brice A.(1996) |
MPZ_000010 |
- |
Y Yang |
./. |
1 |
3 |
c.296T>A |
r.(?) |
p.(Ile99Asn) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.161276650A>T |
Warner LE1, Shohat M, Shorer Z, Lupski JR.(1997) |
MPZ_000036 |
- |
Y Yang |
./. |
1 |
3 |
c.296T>C |
r.(?) |
p.(Ile99Thr) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0021 amino acid substitution |
g.161276650A>G |
Donaghy M1, Sisodiya SM, Kennett R, McDonald B, Haites N, Bell C.(2000) |
MPZ_000003 |
- |
Y Yang |
./. |
1 |
3 |
c.307G>T |
r.(?) |
p.(Gly103Trp) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.161276639C>A |
Brozková D1, Mazanec R, Haberlová J, Sakmaryová I, Seeman P.(2010) |
MPZ_000039 |
- |
Y Yang |
./. |
1 |
3 |
c.308G>A |
r.(?) |
p.(Gly103Glu) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.161276638C>T |
Fabrizi GM1, Ferrarini M, Cavallaro T, Jarre L, Polo A, Rizzuto N.(2001) |
MPZ_000022 |
- |
Y Yang |
./. |
1 |
3 |
c.313C>A |
r.(?) |
p.(Pro105Thr) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.161276633G>T |
1 more item |
MPZ_000030 |
- |
Y Yang |
./. |
1 |
3 |
c.341T>C |
r.(?) |
p.(Ile114Thr) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0021 amino acid substitution |
g.161276605A>G |
Warner LE1, Shohat M, Shorer Z, Lupski JR.(1997) |
MPZ_000034 |
- |
Y Yang |
./. |
1 |
3 |
c.367G>A |
r.(?) |
p.(Gly123Ser) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.161276579C>T |
Lee YC1, Yu CT, Lin KP, Chang MH, Hsu SL, Liu YF, Lu YC, Soong BW.(2008) |
MPZ_000029 |
- |
Y Yang |
./. |
1 |
3 |
c.371C>T |
r.(?) |
p.(Thr124Met) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0021 amino acid substitution |
g.161276575G>A |
1 more item |
MPZ_000015 |
- |
Y Yang |
./. |
1 |
3 |
c.394C>A |
r.(?) |
p.(Pro132Thr) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.161276552G>T |
Brozková D1, Mazanec R, Haberlová J, Sakmaryová I, Seeman P.(2010) |
MPZ_000040 |
- |
Y Yang |
./. |
1 |
3 |
c.395C>T |
r.(?) |
p.(Pro132Leu) |
- |
- |
g.161276551G>A |
Drac H et al. (2011) |
MPZ_000050 |
- |
XY Liu |
./. |
2 |
3 |
c.404T>C |
r.(?) |
p.(Ile135Thr) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0021 amino acid substitution |
g.161276542A>G |
Roa BB1, Warner LE, Garcia CA, Russo D, Lovelace R, Chance PF, Lupski JR.(1996), Drac H et al. (2011) |
MPZ_000008 |
- |
Y Yang, XY Liu |
./. |
1 |
3 |
c.409G>A |
r.(?) |
p.(Gly137Ser) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.161276537C>T |
Roa BB1, Warner LE, Garcia CA, Russo D, Lovelace R, Chance PF, Lupski JR.(1996) |
MPZ_000009 |
- |
Y Yang |
./. |
1 |
3 |
c.428C>G |
r.(?) |
p.(Thr143Arg) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.161276518G>C |
Brozková D1, Mazanec R, Haberlová J, Sakmaryová I, Seeman P.(2010) |
MPZ_000041 |
- |
Y Yang |
./. |
1 |
3 |
c.434A>C |
r.(?) |
p.(Tyr145Ser) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.161276512T>G |
1 more item |
MPZ_000025 |
- |
Y Yang |
./. |
1 |
3 |
c.437T>G |
r.(?) |
p.(Val146Gly) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.161276509A>C |
Brozková D1, Mazanec R, Haberlová J, Sakmaryová I, Seeman P.(2010) |
MPZ_000042 |
- |
Y Yang |
./. |
1 |
4 |
c.486C>G |
r.(?) |
p.(Ile162Met) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.161276217G>C |
1 more item |
MPZ_000018 |
- |
Y Yang |
./. |
1 |
4 |
c.499G>C |
r.(?) |
p.(Gly167Arg) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.161276204C>G |
1 more item |
MPZ_000033 |
- |
Y Yang |
./. |
1 |
4i |
c.584+2T>G |
r.spl? |
p.? |
VariO:0136 DNA substitution; VariO:0316 transversion |
- |
g.161276117A>C |
Sabet A1, Li J, Ghandour K, Pu Q, Wu X, Kamholz J, Shy ME, Cambi F.(2006) |
MPZ_000049 |
- |
Y Yang |
./. |
1 |
5 |
c.618_619insT |
r.(?) |
p.(Lys207*) |
VariO:0142 DNA insertion |
VariO:0015 protein truncation |
g.161275924_161275925insA |
Zschüntzsch J1, Dibaj P, Pilgram S, K?tting J, Gerding WM, Neusch C.(2009) |
MPZ_000046 |
- |
Y Yang |
./. |
2 |
5 |
c.637G>C |
r.(?) |
p.(Gly213Arg) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.161275906C>G |
Brozková D1, Mazanec R, Haberlová J, Sakmaryová I, Seeman P.(2010) |
MPZ_000043 |
- |
Y Yang |
./. |
1 |
6 |
c.670G>T |
r.(?) |
p.(Asp224Tyr) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.161275743C>A |
1 more item |
MPZ_000031 |
- |
Y Yang |
./. |
1 |
6 |
c.736G>A |
r.(?) |
p.(Asp246Asn) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.161275677C>T |
Brozková D1, Mazanec R, Haberlová J, Sakmaryová I, Seeman P.(2010) |
MPZ_000044 |
- |
Y Yang |