Annotation Detail
Information
- Associated Genes
- CACNA1A
- Associated Variants
-
CACNA1A p.Ser1804Leu (p.S1804L)
(
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.Ser1804Leu (p.S1804L) ( 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
- spinocerebellar ataxia type 6 Migraine, familial hemiplegic, 1 Developmental and epileptic encephalopathy, 52 episodic ataxia type 2
- Source Database
- ClinVar
- Description
- NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) AND multiple conditions
- ClinVar Allele ID
- 410503
- ClinVar RefSeq Alternation Syntax
- NM_001127222.2:c.5393C>T
- ClinVar RefSeq Alternation Syntax
- NM_023035.3:c.5411C>T
- ClinVar RefSeq Alternation Syntax
- NM_001127221.2:c.5396C>T
- ClinVar RefSeq Alternation Syntax
- NM_001174080.2:c.5402C>T
- ClinVar RefSeq Alternation Syntax
- NM_000068.4:c.5411C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-03-20
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002227166
- ClinVar Disease
- Migraine, familial hemiplegic, 1
- ClinVar Disease
- Developmental and epileptic encephalopathy, 52
- ClinVar Disease
- Episodic ataxia type 2
- ClinVar Disease
- Spinocerebellar ataxia type 6
- Observed Origin Sample
- de novo
Drugs