Annotation Detail
Information
- Associated Genes
- WFS1
- Associated Variants
-
WFS1 p.Trp648Ter (p.W648*)
(
ENST00000226760.5,
ENST00000503569.5,
ENST00000506362.2,
ENST00000673991.1,
ENST00000682275.1,
ENST00000684087.1 )
WFS1 p.Trp648Ter (p.W648*) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 ) - Associated Disease
- Wolfram syndrome 1
- Source Database
- ClinVar
- Description
- NM_006005.3(WFS1):c.1944G>A (p.Trp648Ter) AND Wolfram syndrome 1
- ClinVar Allele ID
- 19550
- ClinVar RefSeq Alternation Syntax
- NM_006005.3:c.1944G>A
- ClinVar RefSeq Alternation Syntax
- NM_001145853.1:c.1944G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000004769
- ClinVar Disease
- Wolfram syndrome 1
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 9771706
Drugs