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Variant (rsID / SNP)

rs117273916

TRPC6

rs117273916 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRPC6. Location: chromosome 11, position 101,375,528. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TRPC6Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:101375528
Cytoband
11q22.1
HGVS
NM_004621.6(TRPC6):c.172C>T (p.Arg58Trp)
Allele change
Missense_R58W

Associated conditions / phenotypes

Focal segmental glomerulosclerosis 2

Public references

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