Annotation Detail
Information
- Associated Genes
- TGFBI
- Associated Variants
-
TGFBI p.Ala546Asp (p.A546D)
(
ENST00000442011.7 )
TGFBI p.Pro551Gln (p.P551Q) ( ENST00000442011.7 )
TGFBI p.Ala546Asp (p.A546D) ( ENST00000442011.7 )
TGFBI p.Pro551Gln (p.P551Q) ( ENST00000442011.7 ) - Associated Disease
- Lattice corneal dystrophy Type I
- Source Database
- ClinVar
- Description
- NM_000358.2(TGFBI):c.[1637C>A;1652C>A] AND Lattice corneal dystrophy Type I
- ClinVar Allele ID
- 22913
- ClinVar Allele ID
- 38388
- ClinVar RefSeq Alternation Syntax
- NM_000358.3:c.1637C>A
- ClinVar RefSeq Alternation Syntax
- NM_000358.3:c.1652C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2004-11-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000008323
- ClinVar Disease
- Lattice corneal dystrophy Type I
- Observed Origin Sample
- germline
- Pubmed
- 15111592
- Pubmed
- 15531312
Drugs