Annotation Detail
Information
- Associated Genes
- ATP1A3
- Associated Variants
-
ATP1A3 p.Asp814Asn (p.D814N), ENSG00000285505 p.Asp801Asn (p.D801N)
(
ENST00000602133.5,
ENST00000543770.5,
ENST00000545399.6,
ENST00000648268.1 )
ATP1A3 p.Asp814Asn (p.D814N), ENSG00000285505 p.Asp801Asn (p.D801N) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 ) - Associated Disease
- dystonia 12 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome Alternating hemiplegia of childhood 2
- Source Database
- ClinVar
- Description
- NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn) AND multiple conditions
- ClinVar Allele ID
- 45777
- ClinVar RefSeq Alternation Syntax
- NM_001256214.2:c.2440G>A
- ClinVar RefSeq Alternation Syntax
- NM_152296.5:c.2401G>A
- ClinVar RefSeq Alternation Syntax
- NM_001256213.2:c.2434G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2017-05-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000515424
- ClinVar Disease
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
- ClinVar Disease
- Dystonia 12
- ClinVar Disease
- Alternating hemiplegia of childhood 2
- Observed Origin Sample
- unknown
Drugs