Annotation Detail
Information
- Associated Genes
- WFS1
- Associated Variants
-
WFS1 p.Ala684Val (p.A684V)
(
ENST00000226760.5,
ENST00000503569.5,
ENST00000506362.2,
ENST00000673991.1,
ENST00000682275.1,
ENST00000684087.1 )
WFS1 p.Ala684Val (p.A684V) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 ) - Associated Disease
- Rare genetic deafness Wolfram syndrome 1
- Source Database
- ClinVar
- Description
- NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) AND multiple conditions
- ClinVar Allele ID
- 39513
- ClinVar RefSeq Alternation Syntax
- NM_001145853.1:c.2051C>T
- ClinVar RefSeq Alternation Syntax
- NM_006005.3:c.2051C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2017-03-26
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000605882
- ClinVar Disease
- Wolfram syndrome 1
- ClinVar Disease
- Rare genetic deafness
- Observed Origin Sample
- germline
Drugs