Annotation Detail
Information
- Associated Genes
- TGFBI
- Associated Variants
-
TGFBI p.Arg124His (p.R124H)
(
ENST00000442011.7 )
TGFBI p.Arg124His (p.R124H) ( ENST00000442011.7 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000358.3(TGFBI):c.371G>A (p.Arg124His) AND not provided
- ClinVar Allele ID
- 22908
- ClinVar RefSeq Alternation Syntax
- NM_000358.3:c.371G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-14
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001543464
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs