TRPM1
HGNC:7146 · SaudiVarKB evidence summary derived from retained literature mentions.
3Gene mentions
3Publications
1Linked variants
1Associated phenotypes
Associated phenotypes
Co-mentioned in TRPM1 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| retinal dystrophy | HP:0000556 | 1 | 1 |
Linked variants
Variants normalized to TRPM1| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| c.2394delC | c.2394delC | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Saudi Arabia | — | 24 | 1 |
Supporting publications
3 records- 2021Congenital stationary night blindness: an update and review of the disease spectrum in Saudi Arabia.Acta ophthalmologicaPubMed ↗
- 2019Long-term follow-up of retinal function and structure in TRPM1-associated complete congenital stationary night blindness.Molecular visionPubMed ↗
- 2016Congenital stationary night blindness with hypoplastic discs, negative electroretinogram and thinning of the inner nuclear layer.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologiePubMed ↗