Annotation Detail
Information
- Associated Genes
- ATP1A3
- Associated Variants
-
ATP1A3 p.Phe793Leu (p.F793L), ENSG00000285505 p.Phe780Leu (p.F780L)
(
ENST00000543770.5,
ENST00000545399.6,
ENST00000602133.5,
ENST00000648268.1 )
ATP1A3 p.Phe793Leu (p.F793L), ENSG00000285505 p.Phe780Leu (p.F780L) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 ) - Associated Disease
- dystonia 12
- Source Database
- ClinVar
- Description
- NM_152296.5(ATP1A3):c.2338T>C (p.Phe780Leu) AND Dystonia 12
- ClinVar Allele ID
- 27952
- ClinVar RefSeq Alternation Syntax
- NM_001256214.2:c.2377T>C
- ClinVar RefSeq Alternation Syntax
- NM_152296.5:c.2338T>C
- ClinVar RefSeq Alternation Syntax
- NM_001256213.2:c.2371T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2006-07-07
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000013776
- ClinVar Disease
- Dystonia 12
- Observed Origin Sample
- germline
- Pubmed
- 16632466
- Pubmed
- 15260953
Drugs