C1QB complement C1q B chain

Information
Symbol
C1QB
Type
protein-coding
Description
complement C1q B chain
Entrez Gene ID
713
Genome
hg19
Position
chr1:22,979,683-22,988,028
Genome
hg38
Position
chr1:22,653,190-22,661,535
MIM
120570 OMIM
HGNC
HGNC:1242 HGNC
Ensembl
ENSG00000173369 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 6
Likely pathogenic 0 2
Benign 0 26
Likely benign 0 76
Uncertain significance 0 88
Ranking
ClinVar
0
0
26
164
6
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 C1QD2
MIM 120570 OMIM
HGNC HGNC:1242 HGNC
Ensembl ENSG00000173369 Ensembl
AllianceGenome HGNC:1242
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000695758.1 hg38 chr1 22,653,190 22,661,535 8,346
ENST00000695759.1 hg38 chr1 22,653,190 22,661,535 8,346
ENST00000695756.1 hg38 chr1 22,653,190 22,661,535 8,346
ENST00000695755.1 hg38 chr1 22,653,190 22,661,535 8,346
ENST00000695757.1 hg38 chr1 22,653,190 22,661,535 8,346
ENST00000695754.1 hg38 chr1 22,653,190 22,661,535 8,346
ENST00000695760.1 hg38 chr1 22,653,190 22,661,535 8,346
ENST00000695761.1 hg38 chr1 22,653,190 22,661,535 8,346
ENST00000509305.6 hg38 chr1 22,653,236 22,661,637 8,402
ENST00000695762.1 hg38 chr1 22,653,203 22,661,535 8,333
ENST00000695763.1 hg38 chr1 22,659,399 22,661,535 2,137
ENST00000695754.1 hg19 chr1 22,979,683 22,988,028 8,346
ENST00000695755.1 hg19 chr1 22,979,683 22,988,028 8,346
ENST00000695756.1 hg19 chr1 22,979,683 22,988,028 8,346
ENST00000695757.1 hg19 chr1 22,979,683 22,988,028 8,346
ENST00000695758.1 hg19 chr1 22,979,683 22,988,028 8,346
ENST00000695759.1 hg19 chr1 22,979,683 22,988,028 8,346
ENST00000695760.1 hg19 chr1 22,979,683 22,988,028 8,346
ENST00000695761.1 hg19 chr1 22,979,683 22,988,028 8,346
ENST00000695762.1 hg19 chr1 22,979,696 22,988,028 8,333
ENST00000509305.6 hg19 chr1 22,979,729 22,988,130 8,402
ENST00000695763.1 hg19 chr1 22,985,892 22,988,028 2,137
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