Annotation Detail
Information
- Associated Genes
- ATP1A3
- Associated Variants
-
ATP1A3 p.Ser150Tyr (p.S150Y), ENSG00000285505 p.Ser137Tyr (p.S137Y)
(
ENST00000602133.5,
ENST00000543770.5,
ENST00000545399.6,
ENST00000648268.1 )
ATP1A3 p.Ser150Tyr (p.S150Y), ENSG00000285505 p.Ser137Tyr (p.S137Y) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 ) - Associated Disease
- dystonia 12
- Source Database
- ClinVar
- Description
- NM_152296.5(ATP1A3):c.410C>A (p.Ser137Tyr) AND Dystonia 12
- ClinVar Allele ID
- 171001
- ClinVar RefSeq Alternation Syntax
- NM_001256214.2:c.449C>A
- ClinVar RefSeq Alternation Syntax
- NM_001256213.2:c.443C>A
- ClinVar RefSeq Alternation Syntax
- NM_152296.5:c.410C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2019-10-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001206535
- ClinVar Disease
- Dystonia 12
- Observed Origin Sample
- germline
Drugs