NDUFA2 NADH:ubiquinone oxidoreductase subunit A2

Information
Symbol
NDUFA2
Type
protein-coding
Description
NADH:ubiquinone oxidoreductase subunit A2
Entrez Gene ID
4695
Genome
hg19
Position
chr5:140,024,870-140,027,215
Genome
hg38
Position
chr5:140,645,285-140,647,630
MIM
602137 OMIM
HGNC
HGNC:7685 HGNC
Ensembl
ENSG00000131495 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Benign 0 16
Likely benign 0 38
Conflicting classifications of pathogenicity 0 6
Uncertain significance 0 52
Ranking
ClinVar
0
0
20
88
4
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 B8
SYNONYM CD14
SYNONYM CIB8
SYNONYM MC1DN13
MIM 602137 OMIM
HGNC HGNC:7685 HGNC
Ensembl ENSG00000131495 Ensembl
AllianceGenome HGNC:7685
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000252102.9 hg38 chr5 140,645,285 140,647,630 2,346
ENST00000512088.1 hg38 chr5 140,645,369 140,647,645 2,277
ENST00000252102.9 hg19 chr5 140,024,870 140,027,215 2,346
ENST00000512088.1 hg19 chr5 140,024,954 140,027,230 2,277
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