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Variant (rsID / SNP)

rs75321043

MUTYH

rs75321043 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MUTYH. Location: chromosome 1, position 45,800,146. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MUTYHConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:45800146
Cytoband
1p34.1
HGVS
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp)
Allele change
Silent

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 2|Carcinoma of colon

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.