{{Rsnum
|rsid=140523
|Gene=SCO2
|Chromosome=22
|position=50524353
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=C
|GMAF=0.36
|Gene_s=NCAPH2,SCO2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 40.0 | 47.7 | 12.3
| HCB | 53.3 | 42.2 | 4.4
| JPT | 55.8 | 37.2 | 7.0
| YRI | 41.3 | 44.4 | 14.3
| ASW | 0.0 | 0.0 | 0.0
| CHB | 53.3 | 42.2 | 4.4
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=140523
|allele=G
|frequency=0.35
|uid=1103691067386
|type=heterozygous_SNP
|hugo=SCO2
|ensembl gene=ENSG00000130489
|ensembl transcript=ENST00000252785
|sift=TOLERATED
|disease=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.
}}

{{ neighbor
| rsid = 28937868
| distance = 339
}}

{{GET Evidence
|gene=SCO2
|aa_change=Arg20Pro
|aa_change_short=R20P
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs140523
|overall_frequency_n=6744
|overall_frequency_d=10714
|overall_frequency=0.629457
|n_genomes=45
|n_genomes_annotated=0
|n_haplomes=61
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=5
|autoscore=2
|n_web_uneval=3
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}