rs121913333
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | normal |
| (C;T) | 6.5 | Familial Adenomatous Polyposis |
| (T;T) | 5.1 | cancer risk |
| Reference | GRCh38 38.1/142 |
| Chromosome | 5 |
| Position | 112838220 |
| Gene | APC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121913333 |
| dbSNP (classic) | rs121913333 |
| ClinGen | rs121913333 |
| ebi | rs121913333 |
| HLI | rs121913333 |
| Exac | rs121913333 |
| Gnomad | rs121913333 |
| Varsome | rs121913333 |
| LitVar | rs121913333 |
| Map | rs121913333 |
| PheGenI | rs121913333 |
| Biobank | rs121913333 |
| 1000 genomes | rs121913333 |
| hgdp | rs121913333 |
| ensembl | rs121913333 |
| geneview | rs121913333 |
| scholar | rs121913333 |
| rs121913333 | |
| pharmgkb | rs121913333 |
| gwascentral | rs121913333 |
| openSNP | rs121913333 |
| 23andMe | rs121913333 |
| SNPshot | rs121913333 |
| SNPdbe | rs121913333 |
| MSV3d | rs121913333 |
| GWAS Ctlg | rs121913333 |
| Max Magnitude | 6.5 |
Related to
- http://ghr.nlm.nih.gov/condition/familial-adenomatous-polyposis
- https://en.wikipedia.org/wiki/Familial_adenomatous_polyposis
Due to variations in the gene APC adenomatous polyposis coli
- https://en.wikipedia.org/wiki/Adenomatous_polyposis_coli
- http://www.genecards.org/cgi-bin/carddisp.pl?gene=APC
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 18433509
]
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 Colorectal Neoplasms Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | APC |
| CLNDBN | Familial adenomatous polyposis 1 not provided Colorectal Neoplasms Hereditary cancer-predisposing syndrome |
| Reversed | 0 |
| HGVS | NC_000005.9:g.112173917C>T |
| CLNSRC | |
| CLNACC | RCV000198823.3, RCV000236362.2, RCV000438475.1, RCV000492041.1, |
