Variant (rsID / SNP)

rs63751328

rs63751328 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH6. Location: chromosome 2, position 48,032,777. 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: 2:48032777
Cytoband: 2p16.3
HGVS: NM_000179.3(MSH6):c.3577G>A (p.Glu1193Lys)
Allele change: Missense_E1063K

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.