Variant (rsID / SNP)

rs587779231

rs587779231 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH6. Location: chromosome 2, position 48,027,239. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

MSH6Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:48027239
Cytoband: 2p16.3
HGVS: NM_000179.3(MSH6):c.2117T>C (p.Phe706Ser)
Allele change: Missense_F576S

Associated conditions / phenotypes

Lynch 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.