Annotation Detail
Information
- Associated Genes
- ATP1A3
- Associated Variants
-
ATP1A3 p.Met819Arg (p.M819R), ENSG00000285505 p.Met806Arg (p.M806R)
(
ENST00000543770.5,
ENST00000545399.6,
ENST00000602133.5,
ENST00000648268.1 )
ATP1A3 p.Met819Arg (p.M819R), ENSG00000285505 p.Met806Arg (p.M806R) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 ) - Associated Disease
- dystonia 12
- Source Database
- ClinVar
- Description
- NM_152296.5(ATP1A3):c.2417T>G (p.Met806Arg) AND Dystonia 12
- ClinVar Allele ID
- 170977
- ClinVar RefSeq Alternation Syntax
- NM_152296.5:c.2417T>G
- ClinVar RefSeq Alternation Syntax
- NM_001256213.2:c.2450T>G
- ClinVar RefSeq Alternation Syntax
- NM_001256214.2:c.2456T>G
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2017-11-08
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000644929
- ClinVar Disease
- Dystonia 12
- Observed Origin Sample
- germline
Drugs