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Variant (rsID / SNP)

rs63750647

MSH6

rs63750647 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH6. Location: chromosome 2, position 48,027,424. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MSH6Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
Deletion
Chromosome / position
2:48027424
Cytoband
2p16.3
HGVS
NM_000179.3(MSH6):c.2302_2304del (p.Pro768del)

Associated conditions / phenotypes

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.