NDUFA13 NADH:ubiquinone oxidoreductase subunit A13

Information
Symbol
NDUFA13
Type
protein-coding
Description
NADH:ubiquinone oxidoreductase subunit A13
Entrez Gene ID
51079
Genome
hg19
Position
chr19:19,627,034-19,639,007
Genome
hg38
Position
chr19:19,516,225-19,528,198
MIM
609435 OMIM
HGNC
HGNC:17194 HGNC
Ensembl
ENSG00000186010 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Likely pathogenic 0 4
Benign 0 8
Likely benign 0 28
Conflicting classifications of pathogenicity 0 4
Uncertain significance 0 74
Ranking
ClinVar
0
0
10
108
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 :
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 B16.6
SYNONYM CDA016
SYNONYM CGI-39
SYNONYM GRIM-19
SYNONYM GRIM19
SYNONYM MC1DN28
MIM 609435 OMIM
HGNC HGNC:17194 HGNC
Ensembl ENSG00000186010 Ensembl
AllianceGenome HGNC:17194
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000503283.5 hg38 chr19 19,516,228 19,529,054 12,827
ENST00000507754.9 hg38 chr19 19,516,225 19,528,198 11,974
ENST00000428459.6 hg38 chr19 19,516,230 19,528,022 11,793
ENST00000507754.9 hg19 chr19 19,627,034 19,639,007 11,974
ENST00000503283.5 hg19 chr19 19,627,037 19,639,863 12,827
ENST00000428459.6 hg19 chr19 19,627,039 19,638,831 11,793
Genome browser