Annotation Detail
Information
- Associated Genes
- WFS1
- Associated Variants
-
WFS1 p.Arg558Cys (p.R558C)
(
ENST00000226760.5,
ENST00000503569.5,
ENST00000506362.2,
ENST00000673991.1,
ENST00000682275.1,
ENST00000684087.1 )
WFS1 p.Arg558Cys (p.R558C) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 ) - Associated Disease
- Wolfram syndrome
- Source Database
- ClinVar
- Description
- NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) AND Wolfram syndrome
- ClinVar Allele ID
- 195995
- ClinVar RefSeq Alternation Syntax
- NM_001145853.1:c.1672C>T
- ClinVar RefSeq Alternation Syntax
- NM_006005.3:c.1672C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2016-05-11
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000501459
- ClinVar Disease
- Wolfram syndrome
- Observed Origin Sample
- germline
Drugs