Annotation Detail
Information
- Associated Genes
- TSPAN12
- Associated Variants
-
TSPAN12 p.Tyr138Cys (p.Y138C)
(
ENST00000222747.8,
ENST00000415871.5 )
TSPAN12 p.Tyr138Cys (p.Y138C) ( ENST00000222747.8, ENST00000415871.5 ) - Associated Disease
- exudative vitreoretinopathy 5
- Source Database
- ClinVar
- Description
- NM_012338.4(TSPAN12):c.413A>G (p.Tyr138Cys) AND Exudative vitreoretinopathy 5
- ClinVar Allele ID
- 132027
- ClinVar RefSeq Alternation Syntax
- NM_012338.4:c.413A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2012-05-14
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000114398
- ClinVar Disease
- Exudative vitreoretinopathy 5
- Observed Origin Sample
- germline
- Pubmed
- 22427576
- Pubmed
- 15665352
Drugs