Annotation Detail
Information
- Associated Genes
- CACNA1A
- Associated Variants
-
CACNA1A p.Arg583Gln (p.R583Q)
(
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.Arg583Gln (p.R583Q) ( 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 Developmental and epileptic encephalopathy, 42
- Source Database
- ClinVar
- Description
- NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) AND multiple conditions
- ClinVar Allele ID
- 23544
- ClinVar RefSeq Alternation Syntax
- NM_001127221.2:c.1748G>A
- ClinVar RefSeq Alternation Syntax
- NM_000068.4:c.1748G>A
- ClinVar RefSeq Alternation Syntax
- NM_001127222.2:c.1745G>A
- ClinVar RefSeq Alternation Syntax
- NM_001174080.2:c.1748G>A
- ClinVar RefSeq Alternation Syntax
- NM_023035.3:c.1748G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-08-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001380080
- ClinVar Disease
- Developmental and epileptic encephalopathy, 42
- ClinVar Disease
- Episodic ataxia type 2
- Observed Origin Sample
- germline
Drugs