Variant (rsID / SNP)

rs56290308

rs56290308 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRPM6. Location: chromosome 9, position 77,357,506. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TRPM6Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 9:77357506
Cytoband: 9q21.13
HGVS: NM_017662.5(TRPM6):c.5171C>T (p.Thr1724Ile)
Allele change: Missense_T1719I

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.