Annotation Detail
Information
- Associated Genes
- TGFB1
- Associated Variants
-
TGFB1 p.Arg218Cys (p.R218C)
(
ENST00000221930.6,
ENST00000600196.2,
ENST00000677934.1 )
TGFB1 p.Arg218Cys (p.R218C) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1 ) - Associated Disease
- Diaphyseal dysplasia
- Source Database
- ClinVar
- Description
- NM_000660.7(TGFB1):c.652C>T (p.Arg218Cys) AND Diaphyseal dysplasia
- ClinVar Allele ID
- 27570
- ClinVar RefSeq Alternation Syntax
- NM_000660.7:c.652C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2019-05-28
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000013357
- ClinVar Disease
- Diaphyseal dysplasia
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 12843182
- Pubmed
- 11062463
- Pubmed
- 15103729
- Pubmed
- 10973241
Drugs