Variant (rsID / SNP)
rs878854189
rs878854189 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MUTYH. Location: chromosome 1, position 45,799,099. Clinical significance in the table: Pathogenic.
Reference-table entries
MUTYHPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 1:45799099
- Cytoband
- 1p34.1
- HGVS
- NM_001048174.2(MUTYH):c.249dup (p.Pro84fs)
Associated conditions / phenotypes
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.