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
- Inborn genetic diseases
- Source Database
- ClinVar
- Description
- NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) AND Inborn genetic diseases
- 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
- Likely pathogenic
- Clinical Significance Last Update
- 2021-09-30
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002515205
- ClinVar Disease
- Inborn genetic diseases
- Observed Origin Sample
- germline
Drugs