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Variant (rsID / SNP)

rs121434391

TRPC6

rs121434391 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRPC6. Location: chromosome 11, position 101,375,272. 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
11:101375272
Cytoband
11q22.1
HGVS
NM_004621.6(TRPC6):c.428A>G (p.Asn143Ser)
Allele change
Missense_N143S

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.