NDUFB11 NADH:ubiquinone oxidoreductase subunit B11

Information
Symbol
NDUFB11
Type
protein-coding
Description
NADH:ubiquinone oxidoreductase subunit B11
Entrez Gene ID
54539
Genome
hg19
Position
chrX:47,001,470-47,004,865
Genome
hg38
Position
chrX:47,142,071-47,145,466
MIM
300403 OMIM
HGNC
HGNC:20372 HGNC
Ensembl
ENSG00000147123 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 6
Likely pathogenic 0 12
Benign 0 18
Likely benign 0 44
Conflicting classifications of pathogenicity 0 4
not provided 6 0
Uncertain significance 0 50
Ranking
ClinVar
0
0
24
94
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
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-ESSS
SYNONYM ESSS
SYNONYM MC1DN30
SYNONYM NP17.3
SYNONYM Np15
SYNONYM P17.3
MIM 300403 OMIM
HGNC HGNC:20372 HGNC
Ensembl ENSG00000147123 Ensembl
AllianceGenome HGNC:20372
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000690053.1 hg38 chrX 47,142,216 47,144,688 2,473
ENST00000687244.1 hg38 chrX 47,142,071 47,145,466 3,396
ENST00000377811.4 hg38 chrX 47,142,216 47,144,702 2,487
ENST00000276062.9 hg38 chrX 47,142,216 47,144,710 2,495
ENST00000692649.1 hg38 chrX 47,142,216 47,144,707 2,492
ENST00000687244.1 hg19 chrX 47,001,470 47,004,865 3,396
ENST00000690053.1 hg19 chrX 47,001,615 47,004,087 2,473
ENST00000377811.4 hg19 chrX 47,001,615 47,004,101 2,487
ENST00000692649.1 hg19 chrX 47,001,615 47,004,106 2,492
ENST00000276062.9 hg19 chrX 47,001,615 47,004,109 2,495
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