Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Val84Leu (p.V84L)
(
ENST00000382848.5,
ENST00000382844.2 )
GJB2 p.Val84Leu (p.V84L) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Autosomal dominant keratitis-ichthyosis-hearing loss syndrome Ichthyosis, hystrix-like, with hearing loss Autosomal recessive nonsyndromic hearing loss 1A Mutilating keratoderma X-linked mixed hearing loss with perilymphatic gusher Autosomal dominant nonsyndromic hearing loss 3A palmoplantar keratoderma-deafness syndrome Knuckle pads, deafness AND leukonychia syndrome
- Source Database
- ClinVar
- Description
- NM_004004.6(GJB2):c.250G>C (p.Val84Leu) AND multiple conditions
- ClinVar Allele ID
- 32071
- ClinVar RefSeq Alternation Syntax
- NM_004004.6:c.250G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-10-08
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002504805
- ClinVar Disease
- Palmoplantar keratoderma-deafness syndrome
- ClinVar Disease
- Knuckle pads, deafness AND leukonychia syndrome
- ClinVar Disease
- Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
- ClinVar Disease
- Autosomal recessive nonsyndromic hearing loss 1A
- ClinVar Disease
- Mutilating keratoderma
- ClinVar Disease
- Ichthyosis, hystrix-like, with hearing loss
- ClinVar Disease
- X-linked mixed hearing loss with perilymphatic gusher
- ClinVar Disease
- Autosomal dominant nonsyndromic hearing loss 3A
- Observed Origin Sample
- unknown
Drugs