NDUFA1 NADH:ubiquinone oxidoreductase subunit A1

Information
Symbol
NDUFA1
Type
protein-coding
Description
NADH:ubiquinone oxidoreductase subunit A1
Entrez Gene ID
4694
Genome
hg19
Position
chrX:119,005,795-119,010,625
Genome
hg38
Position
chrX:119,871,832-119,876,662
MIM
300078 OMIM
HGNC
HGNC:7683 HGNC
Ensembl
ENSG00000125356 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 4
Likely pathogenic 0 2
Benign 0 34
Likely benign 0 26
not provided 6 0
Uncertain significance 0 20
Ranking
ClinVar
0
0
8
70
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
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
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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-MWFE
SYNONYM MC1DN12
SYNONYM MWFE
SYNONYM ZNF183
MIM 300078 OMIM
HGNC HGNC:7683 HGNC
Ensembl ENSG00000125356 Ensembl
AllianceGenome HGNC:7683
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000371437.5 hg38 chrX 119,871,832 119,876,662 4,831
ENST00000371437.5 hg19 chrX 119,005,795 119,010,625 4,831
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