C1QBP complement C1q binding protein

Information
Symbol
C1QBP
Type
protein-coding
Description
complement C1q binding protein
Entrez Gene ID
708
Genome
hg19
Position
chr17:5,336,097-5,342,475
Genome
hg38
Position
chr17:5,432,777-5,439,155
MIM
601269 OMIM
HGNC
HGNC:1243 HGNC
Ensembl
ENSG00000108561 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 14
Likely pathogenic 0 4
Benign 0 32
Likely benign 0 126
Conflicting classifications of pathogenicity 0 8
Uncertain significance 2 86
Ranking
ClinVar
0
0
34
218
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 COXPD33
SYNONYM GC1QBP
SYNONYM HABP1
SYNONYM SF2AP32
SYNONYM SF2p32
SYNONYM gC1Q-R
SYNONYM gC1qR
SYNONYM p32
MIM 601269 OMIM
HGNC HGNC:1243 HGNC
Ensembl ENSG00000108561 Ensembl
AllianceGenome HGNC:1243
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000225698.8 hg38 chr17 5,432,777 5,439,155 6,379
ENST00000574444.5 hg38 chr17 5,432,801 5,438,778 5,978
ENST00000225698.8 hg19 chr17 5,336,097 5,342,475 6,379
ENST00000574444.5 hg19 chr17 5,336,121 5,342,098 5,978
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