Annotation Detail
Information
- Associated Genes
- TGFB1
- Associated Variants
-
TGFB1 p.Cys223Arg (p.C223R)
(
ENST00000221930.6,
ENST00000600196.2,
ENST00000677934.1 )
TGFB1 p.Cys223Arg (p.C223R) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1 ) - Associated Disease
- Diaphyseal dysplasia
- Source Database
- ClinVar
- Description
- NM_000660.7(TGFB1):c.667T>C (p.Cys223Arg) AND Diaphyseal dysplasia
- ClinVar Allele ID
- 27572
- ClinVar RefSeq Alternation Syntax
- NM_000660.7:c.667T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2004-05-15
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000013359
- ClinVar Disease
- Diaphyseal dysplasia
- Observed Origin Sample
- germline
- Pubmed
- 15103729
Drugs