rs587779220

plus

Geno	Mag	Summary
(C;T)	6	Lynch syndrome, pathogenic mutation
(T;T)	0	common in clinvar

Make rs587779220(C;C)

Reference

GRCh38.p2 38.2/147

Chromosome

2

Position

47799737

Gene

MSH6

is a	snp
is	mentioned by
dbSNP	rs587779220
dbSNP (classic)	rs587779220
ClinGen	rs587779220
ebi	rs587779220
HLI	rs587779220
Exac	rs587779220
Gnomad	rs587779220
Varsome	rs587779220
LitVar	rs587779220
Map	rs587779220
PheGenI	rs587779220
Biobank	rs587779220
1000 genomes	rs587779220
hgdp	rs587779220
ensembl	rs587779220
geneview	rs587779220
scholar	rs587779220
google	rs587779220
pharmgkb	rs587779220
gwascentral	rs587779220
openSNP	rs587779220
23andMe	rs587779220
SNPshot	rs587779220
SNPdbe	rs587779220
MSV3d	rs587779220
GWAS Ctlg	rs587779220

Max Magnitude

6

aka c.1754T>C, p.Leu585Pro or L585P

[PMID 28466842 ]: "The MSH6 p.Leu585Pro mutation is clearly pathogenic in this study with a strong cancer risk association"; and this mutation is considered a founder mutation (in the Icelandic population studied).

ClinVar
Risk	rs587779220(C;C)
Alt	rs587779220(C;C)
Reference	Rs587779220(T;T)
Significance	Probable-Pathogenic
Disease	Lynch syndrome not provided Hereditary cancer-predisposing syndrome
Variation	info
Gene	MSH6
CLNDBN	Lynch syndrome not provided Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000002.11:g.48026876T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000074683.2, RCV000219463.2, RCV000491054.1,