Variant (rsID / SNP)

rs587780078

rs587780078 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MUTYH. Location: chromosome 1, position 45,797,186. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MUTYHPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: Duplication
Chromosome / position: 1:45797186
Cytoband: 1p34.1
HGVS: NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs)

Associated conditions / phenotypes

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

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.