Variant (rsID / SNP)

rs747924946

rs747924946 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH6. Location: chromosome 2, position 48,033,596. 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: 2:48033596
Cytoband: 2p16.3
HGVS: NM_000179.3(MSH6):c.3807C>T (p.Cys1269=)
Allele change: Synonymous_C1139C

Associated conditions / phenotypes

Hereditary cancer-predisposing 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.