Annotation Detail
Information
- Associated Genes
- ATP1A3
- Associated Variants
-
ATP1A3 p.Gly768Cys (p.G768C), ENSG00000285505 p.Gly755Cys (p.G755C)
(
ENST00000602133.5,
ENST00000545399.6,
ENST00000543770.5,
ENST00000648268.1 )
ATP1A3 p.Gly768Cys (p.G768C), ENSG00000285505 p.Gly755Cys (p.G755C) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 ) - Associated Disease
- dystonia 12
- Source Database
- ClinVar
- Description
- NM_152296.5(ATP1A3):c.2263G>T (p.Gly755Cys) AND Dystonia 12
- ClinVar Allele ID
- 170987
- ClinVar RefSeq Alternation Syntax
- NM_152296.5:c.2263G>T
- ClinVar RefSeq Alternation Syntax
- NM_001256213.2:c.2296G>T
- ClinVar RefSeq Alternation Syntax
- NM_001256214.2:c.2302G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2019-09-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000816262
- ClinVar Disease
- Dystonia 12
- Observed Origin Sample
- germline
Drugs