Annotation Detail
Information
- Associated Genes
- TGFBI
- Associated Variants
-
TGFBI p.Gly623Asp (p.G623D)
(
ENST00000442011.7,
ENST00000508076.5 )
TGFBI p.Gly623Asp (p.G623D) ( ENST00000442011.7, ENST00000508076.5 ) - Associated Disease
- Reis-Bucklers' corneal dystrophy
- Source Database
- ClinVar
- Description
- NM_000358.3(TGFBI):c.1868G>A (p.Gly623Asp) AND Reis-Bucklers' corneal dystrophy
- ClinVar Allele ID
- 22915
- ClinVar RefSeq Alternation Syntax
- NM_000358.3:c.1868G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2005-06-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000008325
- ClinVar Disease
- Reis-Bucklers' corneal dystrophy
- Observed Origin Sample
- germline
- Pubmed
- 15885785
- Pubmed
- 11146721
Drugs