Variant (rsID / SNP)

rs876658497

rs876658497 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH6. Location: chromosome 2, position 48,033,919. 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: Duplication
Chromosome / position: 2:48033919
Cytoband: 2p16.3
HGVS: NM_000179.3(MSH6):c.4004_4007dup (p.Cys1337fs)

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms

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.