Annotation Detail
Information
- Associated Genes
- TSPAN12
- Associated Variants
-
TSPAN12 p.Ala237Pro (p.A237P)
(
ENST00000222747.8,
ENST00000415871.5 )
TSPAN12 p.Ala237Pro (p.A237P) ( ENST00000222747.8, ENST00000415871.5 ) - Associated Disease
- exudative vitreoretinopathy 5
- Source Database
- ClinVar
- Description
- NM_012338.4(TSPAN12):c.709G>C (p.Ala237Pro) AND Exudative vitreoretinopathy 5
- ClinVar Allele ID
- 15358
- ClinVar RefSeq Alternation Syntax
- NM_012338.4:c.709G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2010-02-12
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000000347
- ClinVar Disease
- Exudative vitreoretinopathy 5
- Observed Origin Sample
- germline
- Pubmed
- 20159111
Drugs