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Variant (rsID / SNP)

rs201412035

MUTYH

rs201412035 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MUTYH. Location: chromosome 1, position 45,797,224. 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
1:45797224
Cytoband
1p34.1
HGVS
NM_001048174.2(MUTYH):c.1107G>T (p.Leu369=)
Allele change
Silent

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 2

Public references

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