Annotation Detail
Information
- Associated Genes
- ATP1A3
- Associated Variants
-
ATP1A3 p.Glu828Lys (p.E828K), ENSG00000285505 p.Glu815Lys (p.E815K)
(
ENST00000545399.6,
ENST00000543770.5,
ENST00000602133.5,
ENST00000648268.1 )
ATP1A3 p.Glu828Lys (p.E828K), ENSG00000285505 p.Glu815Lys (p.E815K) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 ) - Associated Disease
- Alternating hemiplegia of childhood 2
- Source Database
- ClinVar
- Description
- NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) AND Alternating hemiplegia of childhood 2
- ClinVar Allele ID
- 45778
- ClinVar RefSeq Alternation Syntax
- NM_001256213.2:c.2476G>A
- ClinVar RefSeq Alternation Syntax
- NM_001256214.2:c.2482G>A
- ClinVar RefSeq Alternation Syntax
- NM_152296.5:c.2443G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-12-10
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000030750
- ClinVar Disease
- Alternating hemiplegia of childhood 2
- Observed Origin Sample
- germline
- Pubmed
- 22850527
- Pubmed
- 24842602
- Pubmed
- 22842232
Drugs