Annotation Detail
Information
- Associated Genes
- TACSTD2
- Associated Variants
-
TACSTD2 p.Leu186Pro (p.L186P)
(
ENST00000371225.4 )
TACSTD2 p.Leu186Pro (p.L186P) ( ENST00000371225.4 ) - Associated Disease
- Lattice corneal dystrophy Type III
- Source Database
- ClinVar
- Description
- NM_002353.3(TACSTD2):c.557T>C (p.Leu186Pro) AND Lattice corneal dystrophy Type III
- ClinVar Allele ID
- 31228
- ClinVar RefSeq Alternation Syntax
- NM_002353.3:c.557T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2005-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000017573
- ClinVar Disease
- Lattice corneal dystrophy Type III
- Observed Origin Sample
- germline
- Pubmed
- 15652848
Drugs