Variant (rsID / SNP)

rs1057517763

rs1057517763 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH6. Location: chromosome 2, position 48,032,059. Clinical significance in the table: Pathogenic.

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Reference-table entries

MSH6Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:48032059
Cytoband: 2p16.3
HGVS: NM_000179.3(MSH6):c.3449T>A (p.Leu1150Ter)
Allele change: Nonsense_L1020X

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.