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

rs74435397

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Carrier of a mutation for Bowen-Conradi syndrome
(G;G) 9 Bowen-Conradi syndrome (predicted)
ReferenceGRCh38 38.1/141
Chromosome12
Position6974427
GeneEMG1
is asnp
is mentioned by
dbSNPrs74435397
dbSNP (classic)rs74435397
ClinGenrs74435397
ebirs74435397
HLIrs74435397
Exacrs74435397
Gnomadrs74435397
Varsomers74435397
LitVarrs74435397
Maprs74435397
PheGenIrs74435397
Biobankrs74435397
1000 genomesrs74435397
hgdprs74435397
ensemblrs74435397
geneviewrs74435397
scholarrs74435397
googlers74435397
pharmgkbrs74435397
gwascentralrs74435397
openSNPrs74435397
23andMers74435397
23andMe allrs74435397
SNPshotrs74435397
SNPdbers74435397
MSV3drs74435397
GWAS Ctlgrs74435397
Max Magnitude9

rs74435397, also known as c.257A>G, p.Asp86Gly and D86G, represents a rare variant in the EMG1 gene located on chromosome 12.

When inherited recessively (i.e. in two copies), the D86G mutation, represented as rs74435397(G), is the cause of Bowen-Conradi syndrome, a disorder observed primarily in Hutterite families, with an estimated birth prevalence of 1/355.[PMID 19463982OA-icon.png]

OMIM611531
Desc
Variant0001
Relatedalso
ClinVar
Risk Rs74435397(G;G)
Alt Rs74435397(G;G)
Reference Rs74435397(A;A)
Significance Pathogenic
Disease Bowen-Conradi syndrome
Variation info
Gene EMG1
CLNDBN Bowen-Conradi syndrome
Reversed 0
HGVS NC_000012.11:g.7083589A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000938.2,