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rs140523

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs140523(C;C)
Make rs140523(C;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position50524353
GeneNCAPH2, SCO2
is asnp
is mentioned by
dbSNPrs140523
ebirs140523
HLIrs140523
Exacrs140523
Varsomers140523
Maprs140523
PheGenIrs140523
hapmaprs140523
1000 genomesrs140523
hgdprs140523
ensemblrs140523
gopubmedrs140523
geneviewrs140523
scholarrs140523
googlers140523
pharmgkbrs140523
gwascentralrs140523
openSNPrs140523
23andMers140523
23andMe allrs140523
SNP Nexus

SNPshotrs140523
SNPdbers140523
MSV3drs140523
GWAS Ctlgrs140523
GMAF0.36
Max Magnitude0
? (C;C) (C;G) (G;G) 28
Venter snp
Source plos
Gene SCO2
allele G
frequency 0.35
sift TOLERATED
HuRef 1103691067386
Disease Association Defects in SCO2 are the cause of fatal infantile cardioencephalomyopathy with cytochrome c oxidase deficiency (FIC) (MIM:604377, 220110). This disease is characterized by hypertrophic cardiomyopathy, lactic acidosis, and gliosis. Heart and skeletal muscle show reductions in cytochrome c oxidase (COX) activity, whereas liver and fibroblasts show mild COX deficiencies.



Neighborrs28937868
Distance339


GET Evidence
SCO2-R20P
aa_change Arg20Pro
aa_change_short R20P
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.629457
summary



ClinVar
Risk rs140523(C;C)
Alt rs140523(C;C)
Reference rs140523(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene SCO2 NCAPH2
CLNDBN not specified
Reversed 1
HGVS NC_000022.10:g.50962782C>G
CLNSRC ClinVar GeneDx
CLNACC RCV000128012.1,