CFP complement factor properdin

Information
Symbol
CFP
Type
protein-coding
Description
complement factor properdin
Entrez Gene ID
5199
Genome
hg19
Position
chrX:47,482,681-47,489,329
Genome
hg38
Position
chrX:47,623,282-47,629,930
MIM
300383 OMIM
HGNC
HGNC:8864 HGNC
Ensembl
ENSG00000126759 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 10
Likely pathogenic 0 4
Benign 0 30
Likely benign 0 134
Conflicting classifications of pathogenicity 0 2
not provided 6 0
Uncertain significance 0 170
Ranking
ClinVar
0
0
32
302
8
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 BFD
SYNONYM PFC
SYNONYM PFD
SYNONYM PROPERDIN
MIM 300383 OMIM
HGNC HGNC:8864 HGNC
Ensembl ENSG00000126759 Ensembl
AllianceGenome HGNC:8864
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000247153.7 hg38 chrX 47,624,214 47,630,305 6,092
ENST00000377005.6 hg38 chrX 47,625,988 47,629,965 3,978
ENST00000396992.8 hg38 chrX 47,623,282 47,629,930 6,649
ENST00000396992.8 hg19 chrX 47,482,681 47,489,329 6,649
ENST00000247153.7 hg19 chrX 47,483,613 47,489,704 6,092
ENST00000377005.6 hg19 chrX 47,485,387 47,489,364 3,978
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