NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8

Information
Symbol
NDUFS8
Type
protein-coding
Description
NADH:ubiquinone oxidoreductase core subunit S8
Entrez Gene ID
4728
Genome
hg19
Position
chr11:67,798,148-67,804,111
Genome
hg38
Position
chr11:68,030,681-68,036,644
MIM
602141 OMIM
HGNC
HGNC:7715 HGNC
Ensembl
ENSG00000110717 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Likely pathogenic 0 16
Benign 0 22
Likely benign 0 80
Conflicting classifications of pathogenicity 0 30
Uncertain significance 0 98
Ranking
ClinVar
0
0
42
168
8
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 CI-23k
SYNONYM CI23KD
SYNONYM MC1DN2
SYNONYM TYKY
MIM 602141 OMIM
HGNC HGNC:7715 HGNC
Ensembl ENSG00000110717 Ensembl
AllianceGenome HGNC:7715
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000313468.10 hg38 chr11 68,030,681 68,036,644 5,964
ENST00000528492.1 hg38 chr11 68,030,688 68,036,639 5,952
ENST00000313468.10 hg19 chr11 67,798,148 67,804,111 5,964
ENST00000528492.1 hg19 chr11 67,798,155 67,804,106 5,952
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