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Variant (rsID / SNP)

rs144616312

MUTYH

rs144616312 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MUTYH. Location: chromosome 1, position 45,795,028. 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
1:45795028
Cytoband
1p34.1
HGVS
NM_001048174.2(MUTYH):c.1516C>T (p.Arg506Trp)
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.