Variant (rsID / SNP)

rs587783057

rs587783057 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MUTYH. Location: chromosome 1, position 45,797,348. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MUTYHPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:45797348
Cytoband: 1p34.1
HGVS: NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter)
Allele change: Silent

Associated conditions / phenotypes

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

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.