Variant (rsID / SNP)

rs121917732

rs121917732 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MCC. Location: chromosome 5, position 112,399,807. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MCCPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:112399807
Cytoband: 5q22.2
HGVS: NM_001085377.2(MCC):c.2087G>A (p.Arg696Gln)
Allele change: Missense_R506Q

Associated conditions / phenotypes

Carcinoma of colon

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.