Annotation Detail
Information
- Associated Genes
- TGFBI
- Associated Variants
-
TGFBI p.Arg555Gln (p.R555Q)
(
ENST00000442011.7 )
TGFBI p.Arg555Gln (p.R555Q) ( ENST00000442011.7 ) - Associated Disease
- Thiel-Behnke corneal dystrophy
- Source Database
- ClinVar
- Description
- NM_000358.3(TGFBI):c.1664G>A (p.Arg555Gln) AND Thiel-Behnke corneal dystrophy
- ClinVar Allele ID
- 22906
- ClinVar RefSeq Alternation Syntax
- NM_000358.3:c.1664G>A
- 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/RCV000008316
- ClinVar Disease
- Thiel-Behnke corneal dystrophy
- Observed Origin Sample
- germline
- Pubmed
- 9780098
- Pubmed
- 9054935
- Pubmed
- 11923233
- Pubmed
- 22355247
Drugs