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Variant (rsID / SNP)

rs1316409501

MSH6

rs1316409501 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH6. Location: chromosome 2, position 48,030,802. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MSH6Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:48030802
Cytoband
2p16.3
HGVS
NM_000179.3(MSH6):c.3416G>T (p.Gly1139Val)
Allele change
Missense_G1009V

Associated conditions / phenotypes

Endometrial carcinoma|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms

Public references

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