CYB5D1 cytochrome b5 domain containing 1

Information
Symbol
CYB5D1
Type
protein-coding
Description
cytochrome b5 domain containing 1
Entrez Gene ID
124637
Genome
hg19
Position
chr17:7,761,321-7,765,600
Genome
hg38
Position
chr17:7,858,003-7,862,282
HGNC
HGNC:26516 HGNC
Ensembl
ENSG00000182224 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 32
Ranking
ClinVar
0
0
0
34
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 :
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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
HGNC HGNC:26516 HGNC
Ensembl ENSG00000182224 Ensembl
AllianceGenome HGNC:26516
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000570446.1 hg38 chr17 7,858,030 7,859,774 1,745
ENST00000571846.5 hg38 chr17 7,857,746 7,860,474 2,729
ENST00000332439.5 hg38 chr17 7,858,003 7,862,282 4,280
ENST00000571846.5 hg19 chr17 7,761,064 7,763,792 2,729
ENST00000332439.5 hg19 chr17 7,761,321 7,765,600 4,280
ENST00000570446.1 hg19 chr17 7,761,348 7,763,092 1,745
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