NDUFA4 NDUFA4 mitochondrial complex associated

Information
Symbol
NDUFA4
Type
protein-coding
Description
NDUFA4 mitochondrial complex associated
Entrez Gene ID
4697
Genome
hg19
Position
chr7:10,971,570-10,979,780
Genome
hg38
Position
chr7:10,931,943-10,940,153
MIM
603833 OMIM
HGNC
HGNC:7687 HGNC
Ensembl
ENSG00000189043 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Likely pathogenic 0 2
Benign 0 20
Likely benign 0 48
not provided 0 2
Uncertain significance 0 28
Ranking
ClinVar
0
0
8
90
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 CI-9k
SYNONYM CI-MLRQ
SYNONYM COXFA4
SYNONYM MC4DN21
SYNONYM MISTR1
SYNONYM MLRQ
SYNONYM MRCAF1
MIM 603833 OMIM
HGNC HGNC:7687 HGNC
Ensembl ENSG00000189043 Ensembl
AllianceGenome HGNC:7687
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000339600.6 hg38 chr7 10,931,943 10,940,153 8,211
ENST00000339600.6 hg19 chr7 10,971,570 10,979,780 8,211
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