Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Leu90Pro (p.L90P)
(
ENST00000382844.2,
ENST00000382848.5 )
GJB2 p.Leu90Pro (p.L90P) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Ichthyosis, hystrix-like, with hearing loss
- Source Database
- ClinVar
- Description
- NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) AND Ichthyosis, hystrix-like, with hearing loss
- ClinVar Allele ID
- 32055
- ClinVar RefSeq Alternation Syntax
- NM_004004.6:c.269T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2019-01-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001109788
- ClinVar Disease
- Ichthyosis, hystrix-like, with hearing loss
- Observed Origin Sample
- unknown
Drugs