Annotation Detail
Information
- Associated Genes
- TGFBI
- Associated Variants
-
TGFBI p.Arg555Trp (p.R555W)
(
ENST00000442011.7 )
TGFBI p.Arg555Trp (p.R555W) ( ENST00000442011.7 ) - Associated Disease
- Groenouw corneal dystrophy type I
- Source Database
- ClinVar
- Description
- NM_000358.3(TGFBI):c.1663C>T (p.Arg555Trp) AND Groenouw corneal dystrophy type I
- ClinVar Allele ID
- 22905
- ClinVar RefSeq Alternation Syntax
- NM_000358.3:c.1663C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-09-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000008315
- ClinVar Disease
- Groenouw corneal dystrophy type I
- Observed Origin Sample
- germline
- Pubmed
- 9727509
- Pubmed
- 9054935
Drugs