Annotation Detail
Information
- Associated Genes
- CACNA1A
- Associated Variants
-
CACNA1A p.Val1620SerfsTer7 (p.V1620Sfs*7)
(
ENST00000360228.11,
ENST00000573710.7,
ENST00000585802.7,
ENST00000587525.6,
ENST00000635727.1,
ENST00000635895.1,
ENST00000636012.1,
ENST00000636389.1,
ENST00000636473.2,
ENST00000636549.1,
ENST00000637276.1,
ENST00000637432.1,
ENST00000637736.1,
ENST00000637769.1,
ENST00000637819.2,
ENST00000637927.1,
ENST00000638009.2,
ENST00000638029.1,
ENST00000664864.1 )
CACNA1A p.Pro1269LeufsTer28 (p.P1269Lfs*28) ( ENST00000360228.11, ENST00000573710.7, ENST00000585802.7, ENST00000587525.6, ENST00000635727.1, ENST00000635895.1, ENST00000636012.1, ENST00000636389.1, ENST00000636473.2, ENST00000636549.1, ENST00000637276.1, ENST00000637432.1, ENST00000637736.1, ENST00000637769.1, ENST00000637819.2, ENST00000637927.1, ENST00000638009.2, ENST00000638029.1, ENST00000664864.1 )
CACNA1A p.Arg960AspfsTer113 (p.R960Dfs*113) ( ENST00000360228.11, ENST00000573710.7, ENST00000585802.7, ENST00000587525.6, ENST00000635727.1, ENST00000635895.1, ENST00000636012.1, ENST00000636389.1, ENST00000636473.2, ENST00000636549.1, ENST00000637276.1, ENST00000637432.1, ENST00000637736.1, ENST00000637769.1, ENST00000637819.2, ENST00000637927.1, ENST00000638009.2, ENST00000638029.1, ENST00000664864.1 )
CACNA1A p.Val1620SerfsTer7 (p.V1620Sfs*7) ( ENST00000360228.11, ENST00000573710.7, ENST00000585802.7, ENST00000587525.6, ENST00000635727.1, ENST00000635895.1, ENST00000636012.1, ENST00000636389.1, ENST00000636473.2, ENST00000636549.1, ENST00000637276.1, ENST00000637432.1, ENST00000637736.1, ENST00000637769.1, ENST00000637819.2, ENST00000637927.1, ENST00000638009.2, ENST00000638029.1, ENST00000664864.1 )
CACNA1A p.Pro1269LeufsTer28 (p.P1269Lfs*28) ( ENST00000360228.11, ENST00000573710.7, ENST00000585802.7, ENST00000587525.6, ENST00000635727.1, ENST00000635895.1, ENST00000636012.1, ENST00000636389.1, ENST00000636473.2, ENST00000636549.1, ENST00000637276.1, ENST00000637432.1, ENST00000637736.1, ENST00000637769.1, ENST00000637819.2, ENST00000637927.1, ENST00000638009.2, ENST00000638029.1, ENST00000664864.1 )
CACNA1A p.Arg960AspfsTer113 (p.R960Dfs*113) ( ENST00000360228.11, ENST00000573710.7, ENST00000585802.7, ENST00000587525.6, ENST00000635727.1, ENST00000635895.1, ENST00000636012.1, ENST00000636389.1, ENST00000636473.2, ENST00000636549.1, ENST00000637276.1, ENST00000637432.1, ENST00000637736.1, ENST00000637769.1, ENST00000637819.2, ENST00000637927.1, ENST00000638009.2, ENST00000638029.1, ENST00000664864.1 )
CACNA1A MUTATION
CACNA1A MUTATION
CACNA1A p.Glu1761Lys (p.E1761K) ( ENST00000360228.11, ENST00000573710.7, ENST00000585802.7, ENST00000587525.6, ENST00000635727.1, ENST00000635895.1, ENST00000636012.1, ENST00000636389.1, ENST00000636473.2, ENST00000636549.1, ENST00000637276.1, ENST00000637432.1, ENST00000637736.1, ENST00000637769.1, ENST00000637819.2, ENST00000637927.1, ENST00000638009.2, ENST00000638029.1, ENST00000664864.1 )
CACNA1A p.Ile1714Thr (p.I1714T) ( ENST00000360228.11, ENST00000573710.7, ENST00000585802.7, ENST00000587525.6, ENST00000635727.1, ENST00000635895.1, ENST00000636012.1, ENST00000636389.1, ENST00000636473.2, ENST00000636549.1, ENST00000637276.1, ENST00000637432.1, ENST00000637736.1, ENST00000637769.1, ENST00000637819.2, ENST00000637927.1, ENST00000638009.2, ENST00000638029.1, ENST00000664864.1 )
CACNA1A p.Arg1666His (p.R1666H) ( ENST00000360228.11, ENST00000573710.7, ENST00000585802.7, ENST00000587525.6, ENST00000635727.1, ENST00000635895.1, ENST00000636012.1, ENST00000636389.1, ENST00000636473.2, ENST00000636549.1, ENST00000637276.1, ENST00000637432.1, ENST00000637736.1, ENST00000637769.1, ENST00000637819.2, ENST00000637927.1, ENST00000638009.2, ENST00000638029.1, ENST00000664864.1 )
CACNA1A p.Arg1549Ter (p.R1549*) ( ENST00000360228.11, ENST00000573710.7, ENST00000585802.7, ENST00000587525.6, ENST00000635727.1, ENST00000635895.1, ENST00000636012.1, ENST00000636389.1, ENST00000636473.2, ENST00000636549.1, ENST00000637276.1, ENST00000637432.1, ENST00000637736.1, ENST00000637769.1, ENST00000637819.2, ENST00000637927.1, ENST00000638009.2, ENST00000638029.1, ENST00000664864.1 )
CACNA1A p.Phe1493Ser (p.F1493S) ( ENST00000360228.11, ENST00000573710.7, ENST00000585802.7, ENST00000587525.6, ENST00000635727.1, ENST00000635895.1, ENST00000636012.1, ENST00000636389.1, ENST00000636473.2, ENST00000636549.1, ENST00000637276.1, ENST00000637432.1, ENST00000637736.1, ENST00000637769.1, ENST00000637819.2, ENST00000637927.1, ENST00000638009.2, ENST00000638029.1, ENST00000664864.1 )
CACNA1A p.Phe1406Cys (p.F1406C) ( ENST00000360228.11, ENST00000573710.7, ENST00000585802.7, ENST00000587525.6, ENST00000635727.1, ENST00000635895.1, ENST00000636012.1, ENST00000636389.1, ENST00000636473.2, ENST00000636549.1, ENST00000637276.1, ENST00000637432.1, ENST00000637736.1, ENST00000637769.1, ENST00000637819.2, ENST00000637927.1, ENST00000638009.2, ENST00000638029.1, ENST00000664864.1 )
CACNA1A c.4001+1G>A ( ENST00000360228.11, ENST00000573710.7, ENST00000585802.7, ENST00000587525.6, ENST00000635727.1, ENST00000635895.1, ENST00000636012.1, ENST00000636389.1, ENST00000636473.2, ENST00000636549.1, ENST00000637276.1, ENST00000637432.1, ENST00000637736.1, ENST00000637769.1, ENST00000637819.2, ENST00000637927.1, ENST00000638009.2, ENST00000638029.1, ENST00000664864.1 )
CACNA1A p.Arg1281Ter (p.R1281*) ( ENST00000360228.11, ENST00000573710.7, ENST00000585802.7, ENST00000587525.6, ENST00000635727.1, ENST00000635895.1, ENST00000636012.1, ENST00000636389.1, ENST00000636473.2, ENST00000636549.1, ENST00000637276.1, ENST00000637432.1, ENST00000637736.1, ENST00000637769.1, ENST00000637819.2, ENST00000637927.1, ENST00000638009.2, ENST00000638029.1, ENST00000664864.1 )
CACNA1A c.3834+1G>A ( ENST00000360228.11, ENST00000573710.7, ENST00000585802.7, ENST00000587525.6, ENST00000635727.1, ENST00000635895.1, ENST00000636012.1, ENST00000636389.1, ENST00000636473.2, ENST00000636549.1, ENST00000637276.1, ENST00000637432.1, ENST00000637736.1, ENST00000637769.1, ENST00000637819.2, ENST00000637927.1, ENST00000638009.2, ENST00000638029.1, ENST00000664864.1 )
CACNA1A p.Gly293Arg (p.G293R) ( ENST00000360228.11, ENST00000573710.7, ENST00000585802.7, ENST00000587525.6, ENST00000635727.1, ENST00000635895.1, ENST00000636012.1, ENST00000636389.1, ENST00000636473.2, ENST00000636549.1, ENST00000637276.1, ENST00000637432.1, ENST00000637736.1, ENST00000637769.1, ENST00000637819.2, ENST00000637927.1, ENST00000638009.2, ENST00000638029.1, ENST00000664864.1 )
CACNA1A p.Cys287Tyr (p.C287Y) ( ENST00000360228.11, ENST00000573710.7, ENST00000585802.7, ENST00000587525.6, ENST00000635727.1, ENST00000635895.1, ENST00000636012.1, ENST00000636389.1, ENST00000636473.2, ENST00000636549.1, ENST00000637276.1, ENST00000637432.1, ENST00000637736.1, ENST00000637769.1, ENST00000637819.2, ENST00000637927.1, ENST00000638009.2, ENST00000638029.1, ENST00000664864.1 )
CACNA1A c.631+5G>A ( ENST00000360228.11, ENST00000573710.7, ENST00000585802.7, ENST00000587525.6, ENST00000635727.1, ENST00000635895.1, ENST00000636012.1, ENST00000636389.1, ENST00000636473.2, ENST00000636549.1, ENST00000637276.1, ENST00000637432.1, ENST00000637736.1, ENST00000637769.1, ENST00000637819.2, ENST00000637927.1, ENST00000638009.2, ENST00000638029.1, ENST00000664864.1 )
CACNA1A p.Glu1761Lys (p.E1761K) ( ENST00000360228.11, ENST00000573710.7, ENST00000585802.7, ENST00000587525.6, ENST00000635727.1, ENST00000635895.1, ENST00000636012.1, ENST00000636389.1, ENST00000636473.2, ENST00000636549.1, ENST00000637276.1, ENST00000637432.1, ENST00000637736.1, ENST00000637769.1, ENST00000637819.2, ENST00000637927.1, ENST00000638009.2, ENST00000638029.1, ENST00000664864.1 )
CACNA1A p.Ile1714Thr (p.I1714T) ( ENST00000360228.11, ENST00000573710.7, ENST00000585802.7, ENST00000587525.6, ENST00000635727.1, ENST00000635895.1, ENST00000636012.1, ENST00000636389.1, ENST00000636473.2, ENST00000636549.1, ENST00000637276.1, ENST00000637432.1, ENST00000637736.1, ENST00000637769.1, ENST00000637819.2, ENST00000637927.1, ENST00000638009.2, ENST00000638029.1, ENST00000664864.1 )
CACNA1A p.Arg1666His (p.R1666H) ( ENST00000360228.11, ENST00000573710.7, ENST00000585802.7, ENST00000587525.6, ENST00000635727.1, ENST00000635895.1, ENST00000636012.1, ENST00000636389.1, ENST00000636473.2, ENST00000636549.1, ENST00000637276.1, ENST00000637432.1, ENST00000637736.1, ENST00000637769.1, ENST00000637819.2, ENST00000637927.1, ENST00000638009.2, ENST00000638029.1, ENST00000664864.1 )
CACNA1A p.Arg1549Ter (p.R1549*) ( ENST00000360228.11, ENST00000573710.7, ENST00000585802.7, ENST00000587525.6, ENST00000635727.1, ENST00000635895.1, ENST00000636012.1, ENST00000636389.1, ENST00000636473.2, ENST00000636549.1, ENST00000637276.1, ENST00000637432.1, ENST00000637736.1, ENST00000637769.1, ENST00000637819.2, ENST00000637927.1, ENST00000638009.2, ENST00000638029.1, ENST00000664864.1 )
CACNA1A p.Phe1493Ser (p.F1493S) ( ENST00000360228.11, ENST00000573710.7, ENST00000585802.7, ENST00000587525.6, ENST00000635727.1, ENST00000635895.1, ENST00000636012.1, ENST00000636389.1, ENST00000636473.2, ENST00000636549.1, ENST00000637276.1, ENST00000637432.1, ENST00000637736.1, ENST00000637769.1, ENST00000637819.2, ENST00000637927.1, ENST00000638009.2, ENST00000638029.1, ENST00000664864.1 )
CACNA1A p.Phe1406Cys (p.F1406C) ( ENST00000360228.11, ENST00000573710.7, ENST00000585802.7, ENST00000587525.6, ENST00000635727.1, ENST00000635895.1, ENST00000636012.1, ENST00000636389.1, ENST00000636473.2, ENST00000636549.1, ENST00000637276.1, ENST00000637432.1, ENST00000637736.1, ENST00000637769.1, ENST00000637819.2, ENST00000637927.1, ENST00000638009.2, ENST00000638029.1, ENST00000664864.1 )
CACNA1A c.4001+1G>A ( ENST00000360228.11, ENST00000573710.7, ENST00000585802.7, ENST00000587525.6, ENST00000635727.1, ENST00000635895.1, ENST00000636012.1, ENST00000636389.1, ENST00000636473.2, ENST00000636549.1, ENST00000637276.1, ENST00000637432.1, ENST00000637736.1, ENST00000637769.1, ENST00000637819.2, ENST00000637927.1, ENST00000638009.2, ENST00000638029.1, ENST00000664864.1 )
CACNA1A p.Arg1281Ter (p.R1281*) ( ENST00000360228.11, ENST00000573710.7, ENST00000585802.7, ENST00000587525.6, ENST00000635727.1, ENST00000635895.1, ENST00000636012.1, ENST00000636389.1, ENST00000636473.2, ENST00000636549.1, ENST00000637276.1, ENST00000637432.1, ENST00000637736.1, ENST00000637769.1, ENST00000637819.2, ENST00000637927.1, ENST00000638009.2, ENST00000638029.1, ENST00000664864.1 )
CACNA1A c.3834+1G>A ( ENST00000360228.11, ENST00000573710.7, ENST00000585802.7, ENST00000587525.6, ENST00000635727.1, ENST00000635895.1, ENST00000636012.1, ENST00000636389.1, ENST00000636473.2, ENST00000636549.1, ENST00000637276.1, ENST00000637432.1, ENST00000637736.1, ENST00000637769.1, ENST00000637819.2, ENST00000637927.1, ENST00000638009.2, ENST00000638029.1, ENST00000664864.1 )
CACNA1A p.Gly293Arg (p.G293R) ( ENST00000360228.11, ENST00000573710.7, ENST00000585802.7, ENST00000587525.6, ENST00000635727.1, ENST00000635895.1, ENST00000636012.1, ENST00000636389.1, ENST00000636473.2, ENST00000636549.1, ENST00000637276.1, ENST00000637432.1, ENST00000637736.1, ENST00000637769.1, ENST00000637819.2, ENST00000637927.1, ENST00000638009.2, ENST00000638029.1, ENST00000664864.1 )
CACNA1A p.Cys287Tyr (p.C287Y) ( ENST00000360228.11, ENST00000573710.7, ENST00000585802.7, ENST00000587525.6, ENST00000635727.1, ENST00000635895.1, ENST00000636012.1, ENST00000636389.1, ENST00000636473.2, ENST00000636549.1, ENST00000637276.1, ENST00000637432.1, ENST00000637736.1, ENST00000637769.1, ENST00000637819.2, ENST00000637927.1, ENST00000638009.2, ENST00000638029.1, ENST00000664864.1 )
CACNA1A c.631+5G>A ( ENST00000360228.11, ENST00000573710.7, ENST00000585802.7, ENST00000587525.6, ENST00000635727.1, ENST00000635895.1, ENST00000636012.1, ENST00000636389.1, ENST00000636473.2, ENST00000636549.1, ENST00000637276.1, ENST00000637432.1, ENST00000637736.1, ENST00000637769.1, ENST00000637819.2, ENST00000637927.1, ENST00000638009.2, ENST00000638029.1, ENST00000664864.1 )
CACNA1A p.Ser943GlnfsTer128 (p.S943Qfs*128)
CACNA1A p.Ser943GlnfsTer128 (p.S943Qfs*128) - Associated Disease
- Episodic ataxia type 2 (disorder)
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.575124799966376
- Year of publication
- NA
Drugs