Annotation Detail
Information
- Associated Genes
- ATP1A3
- Associated Variants
-
ATP1A3 p.Ile287Asn (p.I287N), ENSG00000285505 p.Ile274Asn (p.I274N)
(
ENST00000543770.5,
ENST00000545399.6,
ENST00000602133.5,
ENST00000648268.1 )
ATP1A3 p.Ile287Asn (p.I287N), ENSG00000285505 p.Ile274Asn (p.I274N) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 ) - Associated Disease
- Alternating hemiplegia of childhood 2
- Source Database
- ClinVar
- Description
- NM_152296.5(ATP1A3):c.821T>A (p.Ile274Asn) AND Alternating hemiplegia of childhood 2
- ClinVar Allele ID
- 170998
- ClinVar RefSeq Alternation Syntax
- NM_001256214.2:c.860T>A
- ClinVar RefSeq Alternation Syntax
- NM_001256213.2:c.854T>A
- ClinVar RefSeq Alternation Syntax
- NM_152296.5:c.821T>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2012-09-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000148305
- ClinVar Disease
- Alternating hemiplegia of childhood 2
- Observed Origin Sample
- germline
- Pubmed
- 22850527
Drugs