Annotation Detail
Information
- Associated Genes
- POLR2F SOX10
- Associated Variants
-
SOX10 p.Gln377Ter (p.Q377*), POLR2F c.293+6597G>A
(
ENST00000407936.5,
ENST00000360880.6,
ENST00000405557.5,
ENST00000698177.1,
ENST00000396884.8 )
SOX10 p.Gln377Ter (p.Q377*), POLR2F c.293+6597G>A ( ENST00000405557.5, ENST00000407936.5, ENST00000396884.8, ENST00000698177.1, ENST00000360880.6 ) - Associated Disease
- Waardenburg syndrome type 4C
- Source Database
- ClinVar
- Description
- NM_006941.4(SOX10):c.1129C>T (p.Gln377Ter) AND Waardenburg syndrome type 4C
- ClinVar Allele ID
- 22441
- ClinVar RefSeq Alternation Syntax
- NM_001363825.1:c.*38+1457G>A
- ClinVar RefSeq Alternation Syntax
- NM_006941.4:c.1129C>T
- ClinVar RefSeq Alternation Syntax
- NM_001301131.2:c.293+6597G>A
- ClinVar RefSeq Alternation Syntax
- NM_001301130.2:c.293+6597G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1999-03-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000007826
- ClinVar Disease
- Waardenburg syndrome type 4C
- Observed Origin Sample
- germline
- Pubmed
- 10077527
Drugs