Variant (rsID / SNP)

rs1060501333

rs1060501333 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MUTYH. Location: chromosome 1, position 45,797,836. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MUTYHLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:45797836
Cytoband: 1p34.1
HGVS: NM_001048174.2(MUTYH):c.849+2T>G
Allele change: Silent

Associated conditions / phenotypes

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.