TRPM1 Chromosome 15
Transient receptor potential cation channel subfamily M member 1
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What This Gene Does
This gene encodes a member of the transient receptor potential melastatin subfamily of transient receptor potential ion channels. The encoded protein is a calcium permeable cation channel that is expressed in melanocytes and may play a role in melanin synthesis. Specific mutations in this gene are the cause autosomal recessive complete congenital stationary night blindness-1C. The expression of this protein is inversely correlated with melanoma aggressiveness and as such it is used as a prognostic marker for melanoma metastasis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]
Gene Info
Gene Group
"Transient receptor potential cation channels|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
15q13.3
Ensembl
ENSG00000134160
Associated Conditions (12)
Inborn genetic diseases
Retinal dystrophy
Congenital stationary night blindness 1C
Retinitis pigmentosa
TRPM1-related disorder
Hereditary macular dystrophy
Melanoma
Optic atrophy
Congenital stationary night blindness
Night blindness
Intellectual disability
Retinal disorder
Key Variants
RS117777759
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1343418411
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS138216783
Conflicting classifications of pathogenicity
Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
Health Risk
RS138886378
Conflicting classifications of pathogenicity
Congenital stationary night blindness 1C, Retinitis pigmentosa, TRPM1-related disorder
Health Risk
RS138944426
Conflicting classifications of pathogenicity
Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
Health Risk
RS140548001
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1451287233
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS148802607
Conflicting classifications of pathogenicity
TRPM1-related disorder, Hereditary macular dystrophy, TRPM1-related disorder
Health Risk
RS150441866
Conflicting classifications of pathogenicity
Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
Health Risk
RS181499296
Conflicting classifications of pathogenicity
TRPM1-related disorder, TRPM1-related disorder
Health Risk
RS183837653
Conflicting classifications of pathogenicity
Health Risk
RS183856964
Conflicting classifications of pathogenicity
Congenital stationary night blindness 1C, TRPM1-related disorder, Congenital stationary night blindness 1C
Health Risk
All Variants (167)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS764068013 | Health Risk | Likely pathogenic | — |
| RS770561064 | Health Risk | Likely pathogenic | — |
| RS773030662 | Health Risk | Likely pathogenic | Congenital stationary night blindness 1C, Congenital stationary night blindness 1C |
| RS775712832 | Health Risk | Likely pathogenic | — |
| RS779283834 | Health Risk | Likely pathogenic | — |
| RS779821510 | Health Risk | Likely pathogenic | Congenital stationary night blindness 1C, TRPM1-related disorder, Congenital stationary night blindness 1C |
| RS869312176 | Health Risk | Likely pathogenic | Congenital stationary night blindness 1C, Congenital stationary night blindness 1C |
| RS915603269 | Health Risk | Likely pathogenic | — |
| RS1183339720 | Health Risk | Pathogenic | — |
| RS1183501213 | Health Risk | Pathogenic | — |
| RS1195734631 | Health Risk | Pathogenic | Congenital stationary night blindness 1C, Congenital stationary night blindness 1C |
| RS1226505973 | Health Risk | Pathogenic | Congenital stationary night blindness 1C, Congenital stationary night blindness 1C |
| RS1277885369 | Health Risk | Pathogenic | — |
| RS1485527551 | Health Risk | Pathogenic | — |
| RS1567004102 | Health Risk | Pathogenic | — |
| RS1567013693 | Health Risk | Pathogenic | — |
| RS1596029830 | Health Risk | Pathogenic | Congenital stationary night blindness, Congenital stationary night blindness |
| RS2031777349 | Health Risk | Pathogenic | Congenital stationary night blindness 1C, Congenital stationary night blindness 1C |
| RS2032745517 | Health Risk | Pathogenic | — |
| RS2034203464 | Health Risk | Pathogenic | — |
| RS2034367690 | Health Risk | Pathogenic | — |
| RS2034427601 | Health Risk | Pathogenic | — |
| RS2140899111 | Health Risk | Pathogenic | — |
| RS2140900726 | Health Risk | Pathogenic | — |
| RS2140900870 | Health Risk | Pathogenic | — |
| RS2140918716 | Health Risk | Pathogenic | — |
| RS2140927283 | Health Risk | Pathogenic | — |
| RS2140930183 | Health Risk | Pathogenic | — |
| RS2504054902 | Health Risk | Pathogenic | — |
| RS2504069166 | Health Risk | Pathogenic | — |
| RS2504098708 | Health Risk | Pathogenic | — |
| RS2504151276 | Health Risk | Pathogenic | — |
| RS2504151460 | Health Risk | Pathogenic | Congenital stationary night blindness 1C, Congenital stationary night blindness 1C |
| RS2504215456 | Health Risk | Pathogenic | — |
| RS2543159855 | Health Risk | Pathogenic | — |
| RS2543159863 | Health Risk | Pathogenic | — |
| RS2543163481 | Health Risk | Pathogenic | — |
| RS267607140 | Health Risk | Pathogenic | Congenital stationary night blindness 1C, Congenital stationary night blindness 1C |
| RS267607141 | Health Risk | Pathogenic | Congenital stationary night blindness 1C, Congenital stationary night blindness 1C |
| RS748055124 | Health Risk | Pathogenic | — |
| RS749301742 | Health Risk | Pathogenic | — |
| RS749930261 | Health Risk | Pathogenic | Retinal dystrophy, Congenital stationary night blindness 1C, Retinal dystrophy |
| RS751373279 | Health Risk | Pathogenic | — |
| RS753356298 | Health Risk | Pathogenic | — |
| RS755579580 | Health Risk | Pathogenic | — |
| RS756335940 | Health Risk | Pathogenic | — |
| RS756797592 | Health Risk | Pathogenic | — |
| RS759370186 | Health Risk | Pathogenic | Congenital stationary night blindness 1C, Congenital stationary night blindness 1C |
| RS760391688 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS760418372 | Health Risk | Pathogenic | — |