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rs121913333

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 normal
(C;T) 5 cancer risk
(T;T) 5.1 cancer risk
ReferenceGRCh38 38.1/142
Chromosome5
Position112838220
GeneAPC
is asnp
is mentioned by
dbSNPrs121913333
ebirs121913333
HLIrs121913333
Exacrs121913333
Varsomers121913333
Maprs121913333
PheGenIrs121913333
hapmaprs121913333
1000 genomesrs121913333
hgdprs121913333
ensemblrs121913333
gopubmedrs121913333
geneviewrs121913333
scholarrs121913333
googlers121913333
pharmgkbrs121913333
gwascentralrs121913333
openSNPrs121913333
23andMers121913333
23andMe allrs121913333
SNP Nexus

SNPshotrs121913333
SNPdbers121913333
MSV3drs121913333
GWAS Ctlgrs121913333
Max Magnitude5.1
Related to

Due to variations in the gene APC adenomatous polyposis coli

The single variant rs121913333

  • cosmic=COSM18852
  • EVS=0|71.0|6502
  • CSQT=APC
  • NM_000038.5
    • stop_gained

aka p.R876X (NM_000038.5:c.2626C>T)

This is believed to be autosomal dominant, based on descriptions of FAP similar to the abstract of [PMID 18433509OA-icon.png]

Reported in http://www.nature.com/ncomms/2014/141013/ncomms6191/full/ncomms6191.html (see Table 2; identified as a possible cooperating somatic mutation in a SEM4A-driven colorectal cancer)

more specific cases of this variant http://chromium.liacs.nl/LOVD2/colon_cancer/variants.php?select_db=APC&action=search_all&search_Variant%2FDNA=c.2626C%3ET

ClinVar
Risk rs121913333(T;T)
Alt rs121913333(T;T)
Reference rs121913333(C;C)
Significance Pathogenic
Disease Familial adenomatous polyposis 1 not provided
Variation info
Gene APC
CLNDBN Familial adenomatous polyposis 1 not provided
Reversed 0
HGVS NC_000005.9:g.112173917C>T
CLNSRC
CLNACC RCV000198823.2, RCV000236362.1,