Annotation Detail
Information
- Associated Genes
- WFS1
- Associated Variants
-
WFS1 p.Leu829Pro (p.L829P)
(
ENST00000226760.5,
ENST00000503569.5,
ENST00000506362.2,
ENST00000673991.1,
ENST00000682275.1,
ENST00000684087.1 )
WFS1 p.Leu829Pro (p.L829P) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 ) - Associated Disease
- Inborn genetic diseases
- Source Database
- ClinVar
- Description
- NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro) AND Inborn genetic diseases
- ClinVar Allele ID
- 19560
- ClinVar RefSeq Alternation Syntax
- NM_006005.3:c.2486T>C
- ClinVar RefSeq Alternation Syntax
- NM_001145853.1:c.2486T>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2019-10-04
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001267554
- ClinVar Disease
- Inborn genetic diseases
- Observed Origin Sample
- germline
Drugs