Annotation Detail
Information
- Associated Genes
- POLR2F SOX10
- Associated Variants
-
SOX10 p.Ser135Thr (p.S135T), POLR2F c.294-2773C>G
(
ENST00000405557.5,
ENST00000407936.5,
ENST00000360880.6,
ENST00000396884.8,
ENST00000698177.1 )
SOX10 p.Ser135Thr (p.S135T), POLR2F c.294-2773C>G ( ENST00000405557.5, ENST00000407936.5, ENST00000360880.6, ENST00000396884.8, ENST00000698177.1 ) - Associated Disease
- Waardenburg syndrome type 2E, without neurologic involvement
- Source Database
- ClinVar
- Description
- NM_006941.4(SOX10):c.404G>C (p.Ser135Thr) AND Waardenburg syndrome type 2E, without neurologic involvement
- ClinVar Allele ID
- 22436
- ClinVar RefSeq Alternation Syntax
- NM_001363825.1:c.*38+11071C>G
- ClinVar RefSeq Alternation Syntax
- NM_001301131.2:c.293+16211C>G
- ClinVar RefSeq Alternation Syntax
- NM_001301130.2:c.294-2773C>G
- ClinVar RefSeq Alternation Syntax
- NM_006941.4:c.404G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1999-09-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000007821
- ClinVar Disease
- Waardenburg syndrome type 2E, without neurologic involvement
- Observed Origin Sample
- germline
- Pubmed
- 10441344
- Pubmed
- 8911608
Drugs