NDUFAF7 NADH:ubiquinone oxidoreductase complex assembly factor 7

Information
Symbol
NDUFAF7
Type
protein-coding
Description
NADH:ubiquinone oxidoreductase complex assembly factor 7
Entrez Gene ID
55471
Genome
hg19
Position
chr2:37,458,801-37,476,303
Genome
hg38
Position
chr2:37,231,658-37,249,160
MIM
615898 OMIM
HGNC
HGNC:28816 HGNC
Ensembl
ENSG00000003509 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 4
Benign 0 60
Likely benign 0 86
Conflicting classifications of pathogenicity 0 2
not provided 0 2
Uncertain significance 0 76
Ranking
ClinVar
0
0
32
188
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 :
Filtering :
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 C2orf56
SYNONYM MidA
SYNONYM PRO1853
MIM 615898 OMIM
HGNC HGNC:28816 HGNC
Ensembl ENSG00000003509 Ensembl
AllianceGenome HGNC:28816
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000336237.10 hg38 chr2 37,231,679 37,249,160 17,482
ENST00000002125.9 hg38 chr2 37,231,658 37,249,160 17,503
ENST00000002125.9 hg19 chr2 37,458,801 37,476,303 17,503
ENST00000336237.10 hg19 chr2 37,458,822 37,476,303 17,482
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