Have questions? Visit https://www.reddit.com/r/SNPedia

rs587779243

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;GATT) 6 Lynch syndrome, pathogenic mutation
(ATTG;ATTG) 0 common in clinvar
(GATT;GATT) 0 common/normal


Make rs587779243(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position47800552
GeneMSH6
is asnp
is mentioned by
dbSNPrs587779243
dbSNP (old)rs587779243
ClinGenrs587779243
ebirs587779243
HLIrs587779243
Exacrs587779243
Gnomadrs587779243
Varsomers587779243
Maprs587779243
PheGenIrs587779243
Biobankrs587779243
1000 genomesrs587779243
hgdprs587779243
ensemblrs587779243
gopubmedrs587779243
geneviewrs587779243
scholarrs587779243
googlers587779243
pharmgkbrs587779243
gwascentralrs587779243
openSNPrs587779243
23andMers587779243
23andMe allrs587779243
SNP Nexus

SNPshotrs587779243
SNPdbers587779243
MSV3drs587779243
GWAS Ctlgrs587779243
Max Magnitude6

rs587779243, also known as c.2569_2572delGATT or p.Asp857Phefs, represents a pathogenic mutation for Lynch syndrome according to multiple ClinVar submitters.

ClinVar
Risk rs587779243(-;-)
Alt rs587779243(-;-)
Reference Rs587779243(ATTG;ATTG)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH6
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.48027691_48027694delGATT
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000074755.2,