Annotation Detail
Information
- Associated Genes
- TGFBI
- Associated Variants
-
TGFBI p.Pro501Thr (p.P501T)
(
ENST00000442011.7 )
TGFBI p.Pro501Thr (p.P501T) ( ENST00000442011.7 ) - Associated Disease
- corneal dystrophy
- Source Database
- ClinVar
- Description
- NM_000358.3(TGFBI):c.1501C>A (p.Pro501Thr) AND Corneal dystrophy
- ClinVar Allele ID
- 22910
- ClinVar RefSeq Alternation Syntax
- NM_000358.3:c.1501C>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2017-04-28
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000779458
- ClinVar Disease
- Corneal dystrophy
- Observed Origin Sample
- germline
Drugs