Annotation Detail
Information
- Associated Genes
- TGFBI
- Associated Variants
-
TGFBI p.Arg124Leu (p.R124L)
(
ENST00000442011.7 )
TGFBI p.Arg124Leu (p.R124L) ( ENST00000442011.7 ) - Associated Disease
- Avellino corneal dystrophy
- Source Database
- ClinVar
- Description
- NM_000358.3(TGFBI):c.371G>T (p.Arg124Leu) AND Avellino corneal dystrophy
- ClinVar Allele ID
- 22911
- ClinVar RefSeq Alternation Syntax
- NM_000358.3:c.371G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-01-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000995667
- ClinVar Disease
- Avellino corneal dystrophy
- Observed Origin Sample
- de novo
Drugs