Variant (rsID / SNP)

rs2241493

rs2241493 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRPM1. Location: chromosome 15, position 31,362,352. Clinical significance in the table: Benign.

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Reference-table entries

TRPM1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 15:31362352
Cytoband: 15q13.3
HGVS: NM_001252024.2(TRPM1):c.161G>A (p.Ser54Asn)
Allele change: Missense_S32N

Associated conditions / phenotypes

Congenital stationary night blindness 1C

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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