Annotation Detail
Information
- Associated Genes
- GJA1
- Associated Variants
-
GJA1 p.Ala40Val (p.A40V)
(
ENST00000282561.4,
ENST00000647564.1,
ENST00000649003.1,
ENST00000650427.1 )
GJA1 p.Ala40Val (p.A40V) ( ENST00000282561.4, ENST00000647564.1, ENST00000649003.1, ENST00000650427.1 ) - Associated Disease
- erythrokeratodermia variabilis et progressiva 3 Craniometaphyseal dysplasia, autosomal recessive syndactyly type 3 Hypoplastic left heart syndrome 1 oculodentodigital dysplasia Oculodentodigital dysplasia, autosomal recessive Autosomal dominant palmoplantar keratoderma and congenital alopecia Atrioventricular septal defect and common atrioventricular junction
- Source Database
- ClinVar
- Description
- NM_000165.5(GJA1):c.119C>T (p.Ala40Val) AND multiple conditions
- ClinVar Allele ID
- 428500
- ClinVar RefSeq Alternation Syntax
- NM_000165.5:c.119C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-07-09
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002506224
- ClinVar Disease
- Erythrokeratodermia variabilis et progressiva 3
- ClinVar Disease
- Craniometaphyseal dysplasia, autosomal recessive
- ClinVar Disease
- Atrioventricular septal defect and common atrioventricular junction
- ClinVar Disease
- Oculodentodigital dysplasia
- ClinVar Disease
- Hypoplastic left heart syndrome 1
- ClinVar Disease
- Oculodentodigital dysplasia, autosomal recessive
- ClinVar Disease
- Syndactyly type 3
- ClinVar Disease
- Autosomal dominant palmoplantar keratoderma and congenital alopecia
- Observed Origin Sample
- unknown
Drugs