NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1

Information
Symbol
NDUFV1
Type
protein-coding
Description
NADH:ubiquinone oxidoreductase core subunit V1
Entrez Gene ID
4723
Genome
hg19
Position
chr11:67,373,124-67,380,025
Genome
hg38
Position
chr11:67,605,653-67,612,554
MIM
161015 OMIM
HGNC
HGNC:7716 HGNC
Ensembl
ENSG00000167792 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 66
Likely pathogenic 0 58
Benign 0 76
Likely benign 0 444
Conflicting classifications of pathogenicity 0 74
not provided 0 2
Uncertain significance 0 238
Ranking
ClinVar
0
0
142
704
0
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-51K
SYNONYM CI51KD
SYNONYM MC1DN4
SYNONYM UQOR1
MIM 161015 OMIM
HGNC HGNC:7716 HGNC
Ensembl ENSG00000167792 Ensembl
AllianceGenome HGNC:7716
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000532303.5 hg38 chr11 67,606,900 67,612,534 5,635
ENST00000529927.5 hg38 chr11 67,606,940 67,612,528 5,589
ENST00000322776.11 hg38 chr11 67,606,936 67,612,554 5,619
ENST00000415352.6 hg38 chr11 67,606,944 67,612,535 5,592
ENST00000647561.1 hg38 chr11 67,605,653 67,612,554 6,902
ENST00000532303.5 hg19 chr11 67,374,371 67,380,005 5,635
ENST00000322776.11 hg19 chr11 67,374,407 67,380,025 5,619
ENST00000415352.6 hg19 chr11 67,374,415 67,380,006 5,592
ENST00000529927.5 hg19 chr11 67,374,411 67,379,999 5,589
ENST00000647561.1 hg19 chr11 67,373,124 67,380,025 6,902
Genome browser