Annotation Detail
Information
- Associated Genes
- WFS1
- Associated Variants
-
WFS1 p.Arg42Ter (p.R42*)
(
ENST00000226760.5,
ENST00000503569.5,
ENST00000506362.2,
ENST00000673991.1,
ENST00000682059.1,
ENST00000682275.1,
ENST00000684054.1,
ENST00000684087.1,
ENST00000684700.1 )
WFS1 p.Arg42Ter (p.R42*) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682059.1, ENST00000682275.1, ENST00000684054.1, ENST00000684087.1, ENST00000684700.1 ) - Associated Disease
- Wolfram-like syndrome Autosomal dominant nonsyndromic hearing loss 6 Wolfram syndrome 1 cataract 41 type 2 diabetes mellitus
- Source Database
- ClinVar
- Description
- NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) AND multiple conditions
- ClinVar Allele ID
- 187111
- ClinVar RefSeq Alternation Syntax
- NM_006005.3:c.124C>T
- ClinVar RefSeq Alternation Syntax
- NM_001145853.1:c.124C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-02-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001536034
- ClinVar Disease
- Wolfram syndrome 1
- ClinVar Disease
- Cataract 41
- ClinVar Disease
- Type 2 diabetes mellitus
- ClinVar Disease
- Wolfram-like syndrome
- ClinVar Disease
- Autosomal dominant nonsyndromic hearing loss 6
- Observed Origin Sample
- unknown
Drugs