NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3

Information
Symbol
NDUFS3
Type
protein-coding
Description
NADH:ubiquinone oxidoreductase core subunit S3
Entrez Gene ID
4722
Genome
hg19
Position
chr11:47,600,626-47,606,114
Genome
hg38
Position
chr11:47,579,074-47,584,562
MIM
603846 OMIM
HGNC
HGNC:7710 HGNC
Ensembl
ENSG00000213619 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Likely pathogenic 0 10
Benign 0 8
Likely benign 0 74
Conflicting classifications of pathogenicity 0 20
Uncertain significance 0 162
Ranking
ClinVar
0
0
40
216
2
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM CI-30
SYNONYM MC1DN8
MIM 603846 OMIM
HGNC HGNC:7710 HGNC
Ensembl ENSG00000213619 Ensembl
AllianceGenome HGNC:7710
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000263774.9 hg38 chr11 47,579,074 47,584,562 5,489
ENST00000534208.5 hg38 chr11 47,579,072 47,580,954 1,883
ENST00000529276.1 hg38 chr11 47,579,029 47,579,696 668
ENST00000528192.5 hg38 chr11 47,579,040 47,581,303 2,264
ENST00000529276.1 hg19 chr11 47,600,581 47,601,248 668
ENST00000528192.5 hg19 chr11 47,600,592 47,602,855 2,264
ENST00000534208.5 hg19 chr11 47,600,624 47,602,506 1,883
ENST00000263774.9 hg19 chr11 47,600,626 47,606,114 5,489
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