Variant (rsID / SNP)

rs63750523

rs63750523 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH6. Location: chromosome 2, position 48,033,373. 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: 2:48033373
Cytoband: 2p16.3
HGVS: NM_000179.3(MSH6):c.3701_3706dup (p.Glu1234_Leu1235dup)

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|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.