Annotation Detail
Information
- Associated Genes
- CACNA1A
- Associated Variants
-
CACNA1A p.Val1700Ile (p.V1700I)
(
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.Val1700Ile (p.V1700I) ( 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
- Migraine, familial hemiplegic, 1
- Source Database
- ClinVar
- Description
- NM_001127222.2(CACNA1A):c.5080G>A (p.Val1694Ile) AND Migraine, familial hemiplegic, 1
- ClinVar Allele ID
- 79327
- ClinVar RefSeq Alternation Syntax
- NM_001127222.2:c.5080G>A
- ClinVar RefSeq Alternation Syntax
- NM_000068.4:c.5098G>A
- ClinVar RefSeq Alternation Syntax
- NM_023035.3:c.5098G>A
- ClinVar RefSeq Alternation Syntax
- NM_001127221.2:c.5083G>A
- ClinVar RefSeq Alternation Syntax
- NM_001174080.2:c.5089G>A
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000059306
- ClinVar Disease
- Migraine, familial hemiplegic, 1
- Observed Origin Sample
- not provided
Drugs