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Variant (rsID / SNP)

rs63750252

MSH6

rs63750252 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH6. Location: chromosome 2, position 48,032,098. Clinical significance in the table: Likely benign.

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Reference-table entries

MSH6Likely benign
Clinical significance (as recorded)
Likely benign
Variant type
single nucleotide variant
Chromosome / position
2:48032098
Cytoband
2p16.3
HGVS
NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val)
Allele change
Missense_E1033V

Associated conditions / phenotypes

Lynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 5|Carcinoma of colon

Public references

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