Variant (rsID / SNP)

rs147923905

rs147923905 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MUTYH. Location: chromosome 1, position 45,795,040. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MUTYHUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:45795040
Cytoband: 1p34.1
HGVS: NM_001048174.2(MUTYH):c.1504G>T (p.Asp502Tyr)
Allele change: Silent

Associated conditions / phenotypes

Familial adenomatous polyposis 2|Hereditary cancer-predisposing syndrome

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.