CFB complement factor B

Information
Symbol
CFB
Type
protein-coding
Description
complement factor B
Entrez Gene ID
629
Genome
hg19
Position
chr6:31,913,872-31,919,861
Genome
hg38
Position
chr6:31,946,095-31,952,084
MIM
138470 OMIM
HGNC
HGNC:1037 HGNC
Ensembl
ENSG00000243649 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 3 4
Likely pathogenic 0 2
Benign 0 78
Likely benign 0 332
Conflicting classifications of pathogenicity 0 38
not provided 3 0
risk factor 0 4
Uncertain significance 0 460
Ranking
ClinVar
0
0
102
724
14
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 AHUS4
SYNONYM ARMD14
SYNONYM BF
SYNONYM BFD
SYNONYM CFAB
SYNONYM CFBD
SYNONYM FB
SYNONYM FBI12
SYNONYM GBG
SYNONYM H2-Bf
SYNONYM PBF2
MIM 138470 OMIM
HGNC HGNC:1037 HGNC
Ensembl ENSG00000243649 Ensembl
AllianceGenome HGNC:1037
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000483004.2 hg38 chr6 31,946,000 31,952,086 6,087
ENST00000425368.7 hg38 chr6 31,946,095 31,952,084 5,990
ENST00000698628.1 hg38 chr6 31,946,094 31,952,084 5,991
ENST00000483004.2 hg19 chr6 31,913,777 31,919,863 6,087
ENST00000425368.7 hg19 chr6 31,913,872 31,919,861 5,990
ENST00000698628.1 hg19 chr6 31,913,871 31,919,861 5,991
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