Annotation Detail
Information
- Associated Genes
- POLR2F SOX10
- Associated Variants
-
SOX10 p.Glu189Ter (p.E189*), POLR2F c.294-8155C>A
(
ENST00000405557.5,
ENST00000407936.5,
ENST00000360880.6,
ENST00000396884.8,
ENST00000698177.1 )
SOX10 p.Glu189Ter (p.E189*), POLR2F c.294-8155C>A ( ENST00000405557.5, ENST00000407936.5, ENST00000360880.6, ENST00000396884.8, ENST00000698177.1 ) - Associated Disease
- Waardenburg syndrome type 4C
- Source Database
- ClinVar
- Description
- NM_006941.4(SOX10):c.565G>T (p.Glu189Ter) AND Waardenburg syndrome type 4C
- ClinVar Allele ID
- 22432
- ClinVar RefSeq Alternation Syntax
- NM_001363825.1:c.*38+5689C>A
- ClinVar RefSeq Alternation Syntax
- NM_001301131.2:c.293+10829C>A
- ClinVar RefSeq Alternation Syntax
- NM_001301130.2:c.294-8155C>A
- ClinVar RefSeq Alternation Syntax
- NM_006941.4:c.565G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1998-02-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000007817
- ClinVar Disease
- Waardenburg syndrome type 4C
- Observed Origin Sample
- germline
- Pubmed
- 9462749
Drugs