Annotation Detail
Information
- Associated Genes
- ATP1A3
- Associated Variants
-
ATP1A3 p.Glu831Lys (p.E831K), ENSG00000285505 p.Glu818Lys (p.E818K)
(
ENST00000602133.5,
ENST00000545399.6,
ENST00000543770.5,
ENST00000648268.1 )
ATP1A3 p.Glu831Lys (p.E831K), ENSG00000285505 p.Glu818Lys (p.E818K) ( 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.2452G>A (p.Glu818Lys) AND Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
- ClinVar Allele ID
- 166024
- ClinVar RefSeq Alternation Syntax
- NM_001256214.2:c.2491G>A
- ClinVar RefSeq Alternation Syntax
- NM_001256213.2:c.2485G>A
- ClinVar RefSeq Alternation Syntax
- NM_152296.5:c.2452G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-03-16
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000144250
- ClinVar Disease
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
- Observed Origin Sample
- germline
- Observed Origin Sample
- de novo
- Observed Origin Sample
- paternal
- Pubmed
- 25056583
- Pubmed
- 24468074
- Pubmed
- 8733056
- Pubmed
- 29305691
Drugs