Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs786202772

MSH6

rs786202772 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH6. Location: chromosome 2, position 48,018,138. Clinical significance in the table: Conflicting interpretations of pathogenicity.

Reference-table entries

MSH6Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:48018138
Cytoband
2p16.3
HGVS
NM_000179.3(MSH6):c.333C>T (p.Tyr111=)
Allele change
Silent

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Lynch syndrome|Colorectal cancer, hereditary nonpolyposis, type 5|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.