Variant (rsID / SNP)

rs863225399

rs863225399 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH6. Location: chromosome 2, position 48,026,433. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

MSH6Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: Duplication
Chromosome / position: 2:48026433
Cytoband: 2p16.3
HGVS: NM_000179.3(MSH6):c.1312dup (p.Met438fs)

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.