Annotation Detail
Information
- Associated Genes
- ATP1A3
- Associated Variants
-
ATP1A3 p.Thr784Ile (p.T784I), ENSG00000285505 p.Thr771Ile (p.T771I)
(
ENST00000543770.5,
ENST00000545399.6,
ENST00000602133.5,
ENST00000648268.1 )
ATP1A3 p.Thr784Ile (p.T784I), ENSG00000285505 p.Thr771Ile (p.T771I) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 ) - Associated Disease
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
- Source Database
- ClinVar
- Description
- NM_152296.5(ATP1A3):c.2312C>T (p.Thr771Ile) AND Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
- ClinVar Allele ID
- 964892
- ClinVar RefSeq Alternation Syntax
- NM_001256213.2:c.2345C>T
- ClinVar RefSeq Alternation Syntax
- NM_001256214.2:c.2351C>T
- ClinVar RefSeq Alternation Syntax
- NM_152296.5:c.2312C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-03-02
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001254116
- ClinVar Disease
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
- Observed Origin Sample
- de novo
Drugs