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rs587782557

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 6 Familial adenomatous polyposis
(-;AT) 4 Familial adenomatous polyposis
(AT;AT) 0 common in clinvar
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position112775632
GeneAPC
is asnp
is mentioned by
dbSNPrs587782557
dbSNP (old)rs587782557
ClinGenrs587782557
ebirs587782557
HLIrs587782557
Exacrs587782557
Varsomers587782557
Maprs587782557
PheGenIrs587782557
Biobankrs587782557
1000 genomesrs587782557
hgdprs587782557
ensemblrs587782557
gopubmedrs587782557
geneviewrs587782557
scholarrs587782557
googlers587782557
pharmgkbrs587782557
gwascentralrs587782557
openSNPrs587782557
23andMers587782557
23andMe allrs587782557
SNP Nexus

SNPshotrs587782557
SNPdbers587782557
MSV3drs587782557
GWAS Ctlgrs587782557
Max Magnitude6

rs587782557, also known as c.426_427delAT or p.Leu143Alafs, represents a rare mutation in the APC gene on chromosome 5.

First discovered in 1993 ([PMID 8252630OA-icon.png], the mutant form of this variant is considered to lead to a dominantly inherited form of attentuated familial polyposis. In 2007, a publication showed based on two large AFAP kindreds that this mutation was linked back to a founding couple who came to America from England around 1630, and who in modern day America are likely to have many descendants, including several current kindreds among Mormons in Utah.[PMID 18063416OA-icon.png]

A magazine article focusing primarily on the historic use of Mormon genealogical records to uncover this mutation was published here in 2017.


ClinVar
Risk Rs587782557(-;-)
Alt Rs587782557(-;-)
Reference Rs587782557(AT;AT)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 not provided
Variation info
Gene APC
CLNDBN Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 not provided
Reversed 0
HGVS NC_000005.9:g.112111329_112111330delAT
CLNSRC
CLNACC RCV000131775.6, RCV000144571.5, RCV000202026.3,