Annotation Detail
Information
- Associated Genes
- CACNA1A
- Associated Variants
-
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.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 ) - Associated Disease
- Episodic ataxia type 2 (disorder)
- Source Database
- DisGeNET
- Description
- Mutations in the brain specific P/Q type Ca2+ channel alpha1 subunit gene, CACNA1A, have been identified in three clinically distinct disorders, viz. episodic ataxia type 2 (EA-2), familial hemiplegic migraine (FHM) and spinocerebellar ataxia 6 (SCA6).
- Pubmed
- 10987655
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.575124799966376
- Year of publication
- 1999
Drugs