Annotation Detail
Information
- Associated Genes
- TGFB1 LOC130064510
- Associated Variants
-
TGFB1 p.Tyr81His (p.Y81H)
(
ENST00000221930.6,
ENST00000600196.2,
ENST00000677934.1,
ENST00000539627.5 )
TGFB1 p.Tyr81His (p.Y81H) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1, ENST00000539627.5 ) - Associated Disease
- Diaphyseal dysplasia
- Source Database
- ClinVar
- Description
- NM_000660.7(TGFB1):c.241T>C (p.Tyr81His) AND Diaphyseal dysplasia
- ClinVar Allele ID
- 27571
- ClinVar RefSeq Alternation Syntax
- NM_000660.7:c.241T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2000-11-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000013358
- ClinVar Disease
- Diaphyseal dysplasia
- Observed Origin Sample
- germline
- Pubmed
- 11062463
Drugs