TSPAN12
HGNC:21641 · SaudiVarKB evidence summary derived from retained literature mentions.
2Gene mentions
2Publications
4Linked variants
1Associated phenotypes
Associated phenotypes
Co-mentioned in TSPAN12 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| congenital cataract | — | 1 | 1 |
Linked variants
Variants normalized to TSPAN12| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| c.315T>A | c.315T>A | 1 | 1 |
| p.Cys105Ter | p.Cys105Ter | 1 | 1 |
| c.565T>C | c.565T>C | 1 | 1 |
| p.Cys189Arg | p.Cys189Arg | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|
No structured population context is available.
Supporting publications
2 records- 2022A novel variant in the TSPAN12 gene-presenting as unilateral myopia, pediatric cataract, and heterochromia in a patient with familial exudative vitreoretinopathy.European journal of ophthalmologyPubMed ↗
- 2017Variable Familial Exudative Vitreoretinopathy in a family harbouring variants in both FZD4 and TSPAN12.Acta ophthalmologicaPubMed ↗