NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3

Information
Symbol
NDUFAF3
Type
protein-coding
Description
NADH:ubiquinone oxidoreductase complex assembly factor 3
Entrez Gene ID
25915
Genome
hg19
Position
chr3:49,059,554-49,060,928
Genome
hg38
Position
chr3:49,022,121-49,023,495
MIM
612911 OMIM
HGNC
HGNC:29918 HGNC
Ensembl
ENSG00000178057 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 8
Likely pathogenic 0 6
Benign 0 4
Likely benign 0 68
Conflicting classifications of pathogenicity 0 22
not provided 2 0
Uncertain significance 0 120
Ranking
ClinVar
0
0
28
172
6
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 2P1
SYNONYM C3orf60
SYNONYM E3-3
SYNONYM MC1DN18
MIM 612911 OMIM
HGNC HGNC:29918 HGNC
Ensembl ENSG00000178057 Ensembl
AllianceGenome HGNC:29918
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000326912.8 hg38 chr3 49,020,459 49,023,287 2,829
ENST00000451378.2 hg38 chr3 49,021,605 49,023,288 1,684
ENST00000395458.6 hg38 chr3 49,021,185 49,023,287 2,103
ENST00000326925.11 hg38 chr3 49,022,121 49,023,495 1,375
ENST00000326912.8 hg19 chr3 49,057,892 49,060,720 2,829
ENST00000395458.6 hg19 chr3 49,058,618 49,060,720 2,103
ENST00000451378.2 hg19 chr3 49,059,038 49,060,721 1,684
ENST00000326925.11 hg19 chr3 49,059,554 49,060,928 1,375
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