TRPM1
Chr 15ARtransient receptor potential cation channel subfamily M member 1
Also known as: CSNB1C, LTRPC1, MLSN1
This gene encodes TRPM1, a constitutively open calcium-permeable cation channel that plays an essential role in the depolarizing photoresponse of retinal ON bipolar cells by mediating calcium and other divalent cation influx. Mutations cause autosomal recessive complete congenital stationary night blindness-1C, a condition present from birth affecting night vision. The gene shows very low constraint against loss-of-function variants (pLI near zero), consistent with its recessive inheritance pattern.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TRPM1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools