Annotation Detail
Information
- Associated Genes
- WFS1
- Associated Variants
-
WFS1 p.Arg859Gln (p.R859Q)
(
ENST00000226760.5,
ENST00000503569.5,
ENST00000506362.2,
ENST00000673991.1,
ENST00000682275.1,
ENST00000684087.1 )
WFS1 p.Arg859Gln (p.R859Q) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 ) - Associated Disease
- WFS1-Related Spectrum Disorders
- Source Database
- ClinVar
- Description
- NM_006005.3(WFS1):c.2576G>A (p.Arg859Gln) AND WFS1-Related Spectrum Disorders
- ClinVar Allele ID
- 19568
- ClinVar RefSeq Alternation Syntax
- NM_001145853.1:c.2576G>A
- ClinVar RefSeq Alternation Syntax
- NM_006005.3:c.2576G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-08-08
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000275899
- ClinVar Disease
- WFS1-Related Spectrum Disorders
- Observed Origin Sample
- unknown
Drugs