Variant (rsID / SNP)

rs990650403

rs990650403 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH6. Location: chromosome 2, position 48,028,137. 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: 2:48028137
Cytoband: 2p16.3
HGVS: NM_000179.3(MSH6):c.3015A>G (p.Arg1005=)
Allele change: Synonymous_R875R

Associated conditions / phenotypes

Hereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome

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.