Annotation Detail
Information
- Associated Genes
- HOXD13
- Associated Variants
-
HOXD13 p.Ser316Cys (p.S316C)
(
ENST00000392539.4 )
HOXD13 p.Ser316Cys (p.S316C) ( ENST00000392539.4 ) - Associated Disease
- brachydactyly type E1
- Source Database
- ClinVar
- Description
- NM_000523.4(HOXD13):c.947C>G (p.Ser316Cys) AND Brachydactyly type E1
- ClinVar Allele ID
- 29909
- ClinVar RefSeq Alternation Syntax
- NM_000523.4:c.947C>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2003-04-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015997
- ClinVar Disease
- Brachydactyly type E1
- Observed Origin Sample
- germline
- Pubmed
- 12649808
Drugs