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Variant (rsID / SNP)

rs138886378

TRPM1

rs138886378 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRPM1. Location: chromosome 15, position 31,359,348. 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
15:31359348
Cytoband
15q13.3
HGVS
NM_001252024.2(TRPM1):c.536C>T (p.Ser179Phe)
Allele change
Missense_S157F

Associated conditions / phenotypes

Congenital stationary night blindness 1C|Retinitis pigmentosa

Public references

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