rs587782557

plus

Geno	Mag	Summary
(-;-)	6	Familial adenomatous polyposis
(-;AT)	6.5	Familial Adenomatous Polyposis
(AT;AT)	0	common in clinvar

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

112775632

Gene

APC

is a	snp
is	mentioned by
dbSNP	rs587782557
dbSNP (classic)	rs587782557
ClinGen	rs587782557
ebi	rs587782557
HLI	rs587782557
Exac	rs587782557
Gnomad	rs587782557
Varsome	rs587782557
LitVar	rs587782557
Map	rs587782557
PheGenI	rs587782557
Biobank	rs587782557
1000 genomes	rs587782557
hgdp	rs587782557
ensembl	rs587782557
geneview	rs587782557
scholar	rs587782557
google	rs587782557
pharmgkb	rs587782557
gwascentral	rs587782557
openSNP	rs587782557
23andMe	rs587782557
SNPshot	rs587782557
SNPdbe	rs587782557
MSV3d	rs587782557
GWAS Ctlg	rs587782557

Max Magnitude

6.5

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 8252630 ], 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 18063416 ]

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,