{{Rsnum
|rsid=1142530
|Gene=NDUFS7
|Chromosome=19
|position=1388539
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.444
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=NDUFS7
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 11.6 | 52.7 | 35.7
| HCB | 45.3 | 44.5 | 10.2
| JPT | 33.3 | 49.5 | 17.1
| YRI | 52.7 | 36.3 | 11.0
| ASW | 43.9 | 45.6 | 10.5
| CHB | 45.3 | 44.5 | 10.2
| CHD | 45.0 | 41.3 | 13.8
| GIH | 18.8 | 44.6 | 36.6
| LWK | 55.5 | 40.0 | 4.5
| MEX | 25.9 | 46.6 | 27.6
| MKK | 25.6 | 54.5 | 19.9
| TSI | 9.8 | 55.9 | 34.3
| HapMapRevision=28
}}{{Venter SNP
|rsid=1142530
|allele=T
|frequency=
|uid=1103691070511
|type=heterozygous_SNP
|hugo=NDUFS7
|ensembl gene=ENSG00000115286
|ensembl transcript=ENST00000382445
|sift=TOLERATED
|disease=Defects in NDUFS7 are a cause of complex I mitochondrial respiratory chain deficiency (MIM:252010). Complex I (NADH- ubiquinone oxidoreductase), the largest complex of the mitochondrial respiratory chain, contains more than 40 subunits. It is embedded in the inner mitochondrial membrane and is partly protruding in the matrix. Complex I deficiency is the most common cause of mitochondrial disorders. It represents largely one-third of all cases of respiratory chain deficiency and is responsible for a variety of clinical symptoms, ranging from neurological disorders to cardiomyopathy, liver failure, and myopathy.
}}

{{ neighbor
| rsid = 7258846
| distance = 526
}}

{{PMID Auto
|PMID=16436204
|Title=GPNN: power studies and applications of a neural network method for detecting gene-gene interactions in studies of human disease.
|OA=1
}}

{{GET Evidence
|gene=NDUFS7
|aa_change=Pro23Leu
|aa_change_short=P23L
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1142530
|overall_frequency_n=5784
|overall_frequency_d=10750
|overall_frequency=0.538047
|n_genomes=24
|n_genomes_annotated=0
|n_haplomes=30
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.001
|genetests_testable=Y
|nblosum100=7
|autoscore=2
|n_web_uneval=3
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}