Variant (rsID / SNP)

rs863225404

rs863225404 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH6. Location: chromosome 2, position 48,028,294. 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: 2:48028294
Cytoband: 2p16.3
HGVS: NM_000179.3(MSH6):c.3172G>C (p.Asp1058His)
Allele change: Missense_D928H

Associated conditions / phenotypes

Lynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Carcinoma of colon

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.