NDUFA9 NADH:ubiquinone oxidoreductase subunit A9

Information
Symbol
NDUFA9
Type
protein-coding
Description
NADH:ubiquinone oxidoreductase subunit A9
Entrez Gene ID
4704
Genome
hg19
Position
chr12:4,758,280-4,803,483
Genome
hg38
Position
chr12:4,649,114-4,694,317
MIM
603834 OMIM
HGNC
HGNC:7693 HGNC
Ensembl
ENSG00000139180 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Likely pathogenic 0 6
Benign 0 84
Likely benign 0 120
Conflicting classifications of pathogenicity 0 20
Uncertain significance 0 174
Ranking
ClinVar
0
0
62
316
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 :
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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 CC6
SYNONYM CI-39k
SYNONYM CI39k
SYNONYM COQ11
SYNONYM MC1DN26
SYNONYM NDUFS2L
SYNONYM SDR22E1
MIM 603834 OMIM
HGNC HGNC:7693 HGNC
Ensembl ENSG00000139180 Ensembl
AllianceGenome HGNC:7693
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000540688.1 hg38 chr12 4,684,980 4,687,233 2,254
ENST00000266544.10 hg38 chr12 4,649,114 4,694,317 45,204
ENST00000266544.10 hg19 chr12 4,758,280 4,803,483 45,204
ENST00000540688.1 hg19 chr12 4,794,146 4,796,399 2,254
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