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Variant (rsID / SNP)

rs63751405

MSH6

rs63751405 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH6. Location: chromosome 2, position 48,026,426. 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
single nucleotide variant
Chromosome / position
2:48026426
Cytoband
2p16.3
HGVS
NM_000179.3(MSH6):c.1304T>C (p.Leu435Pro)
Allele change
Missense_L305P

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 5

Public references

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