Annotation Detail
Information
- Associated Genes
- TGFB1
- Associated Variants
-
TGFB1 p.Arg218His (p.R218H)
(
ENST00000600196.2,
ENST00000221930.6,
ENST00000677934.1 )
TGFB1 p.Arg218His (p.R218H) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1 ) - Associated Disease
- Diaphyseal dysplasia
- Source Database
- ClinVar
- Description
- NM_000660.7(TGFB1):c.653G>A (p.Arg218His) AND Diaphyseal dysplasia
- ClinVar Allele ID
- 27568
- ClinVar RefSeq Alternation Syntax
- NM_000660.7:c.653G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000013355
- ClinVar Disease
- Diaphyseal dysplasia
- Observed Origin Sample
- germline
- Pubmed
- 10973241
Drugs