Annotation Detail
Information
- Associated Genes
- ARID1A
- Associated Variants
-
ARID1A p.Ala41Val (p.A41V)
(
ENST00000324856.13,
ENST00000457599.7,
ENST00000430799.7 )
ARID1A p.Ala41Val (p.A41V) ( ENST00000324856.13, ENST00000430799.7, ENST00000457599.7 ) - Associated Disease
- Intellectual disability, autosomal dominant 14
- Source Database
- ClinVar
- Description
- NM_006015.6(ARID1A):c.122C>T (p.Ala41Val) AND Intellectual disability, autosomal dominant 14
- ClinVar Allele ID
- 1087300
- ClinVar RefSeq Alternation Syntax
- NM_006015.6:c.122C>T
- ClinVar RefSeq Alternation Syntax
- NM_139135.4:c.122C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2020-05-07
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001420572
- ClinVar Disease
- Intellectual disability, autosomal dominant 14
- Observed Origin Sample
- inherited
Drugs