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rs199474724

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199474724(A;A)
Make rs199474724(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position156134839
GeneLMNA
is asnp
is mentioned by
dbSNPrs199474724
ebirs199474724
HLIrs199474724
Exacrs199474724
Varsomers199474724
Maprs199474724
PheGenIrs199474724
hapmaprs199474724
1000 genomesrs199474724
hgdprs199474724
ensemblrs199474724
gopubmedrs199474724
geneviewrs199474724
scholarrs199474724
googlers199474724
pharmgkbrs199474724
gwascentralrs199474724
openSNPrs199474724
23andMers199474724
23andMe allrs199474724
SNP Nexus

SNPshotrs199474724
SNPdbers199474724
MSV3drs199474724
GWAS Ctlgrs199474724
Max Magnitude0
ClinVar
Risk rs199474724(A;A)
Alt rs199474724(A;A)
Reference rs199474724(G;G)
Significance Pathogenic
Disease Benign scapuloperoneal muscular dystrophy with cardiomyopathy Emery-Dreifuss muscular dystrophy 3
Variation info
Gene LMNA
CLNDBN Benign scapuloperoneal muscular dystrophy with cardiomyopathy Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Reversed 0
HGVS NC_000001.10:g.156104630G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000034134.2, RCV000190400.3,


[PMID 22431096] Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing.