Annotation Detail
Information
- Associated Genes
- TGFBI
- Associated Variants
-
TGFBI p.Arg124Cys (p.R124C)
(
ENST00000442011.7 )
TGFBI p.Arg124Cys (p.R124C) ( ENST00000442011.7 ) - Associated Disease
- epithelial-stromal TGFBI dystrophy
- Source Database
- ClinVar
- Description
- NM_000358.3(TGFBI):c.370C>T (p.Arg124Cys) AND Epithelial-stromal TGFBI dystrophy
- ClinVar Allele ID
- 22907
- ClinVar RefSeq Alternation Syntax
- NM_000358.3:c.370C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-05-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002466395
- ClinVar Disease
- Epithelial-stromal TGFBI dystrophy
- Observed Origin Sample
- germline
Drugs