Variant (rsID / SNP)

rs121912625

rs121912625 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRPM6. Location: chromosome 9, position 77,455,062. Clinical significance in the table: Pathogenic.

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Reference-table entries

TRPM6Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:77455062
Cytoband: 9q21.13
HGVS: NM_017662.5(TRPM6):c.422C>T (p.Ser141Leu)
Allele change: Missense_S136L

Associated conditions / phenotypes

Intestinal hypomagnesemia 1

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.