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Variant (rsID / SNP)

rs191205969

TRPM1

rs191205969 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRPM1. Location: chromosome 15, position 31,360,213. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TRPM1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
15:31360213
Cytoband
15q13.3
HGVS
NM_001252024.2(TRPM1):c.362T>C (p.Leu121Pro)
Allele change
Missense_L99P

Associated conditions / phenotypes

Congenital stationary night blindness 1C|Retinal dystrophy

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.