Annotation Detail
Information
- Associated Genes
- HOXD13
- Associated Variants
-
HOXD13 p.Ile322Leu (p.I322L)
(
ENST00000392539.4 )
HOXD13 p.Ile322Leu (p.I322L) ( ENST00000392539.4 ) - Associated Disease
- brachydactyly type D
- Source Database
- ClinVar
- Description
- NM_000523.4(HOXD13):c.964A>C (p.Ile322Leu) AND Brachydactyly type D
- ClinVar Allele ID
- 29908
- ClinVar RefSeq Alternation Syntax
- NM_000523.4:c.964A>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2006-01-27
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015996
- ClinVar Disease
- Brachydactyly type D
- Observed Origin Sample
- germline
- Pubmed
- 12649808
- Pubmed
- 16314414
- Pubmed
- 12620993
Drugs