CFD complement factor D

Information
Symbol
CFD
Type
protein-coding
Description
complement factor D
Entrez Gene ID
1675
Genome
hg19
Position
chr19:859,664-863,450
Genome
hg38
Position
chr19:859,664-863,450
MIM
134350 OMIM
HGNC
HGNC:2771 HGNC
Ensembl
ENSG00000197766 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 10
Likely pathogenic 0 8
Benign 0 28
Likely benign 0 194
Conflicting classifications of pathogenicity 0 2
no classification for the single variant 0 4
Uncertain significance 0 242
Ranking
ClinVar
0
0
52
428
2
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
SYNONYM ADIPSIN
SYNONYM ADN
SYNONYM DF
SYNONYM PFD
MIM 134350 OMIM
HGNC HGNC:2771 HGNC
Ensembl ENSG00000197766 Ensembl
AllianceGenome HGNC:2771
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000695943.1 hg38 chr19 859,453 863,450 3,998
ENST00000695944.1 hg38 chr19 859,664 863,448 3,785
ENST00000695942.1 hg38 chr19 859,453 863,450 3,998
ENST00000695945.1 hg38 chr19 859,664 863,449 3,786
ENST00000327726.11 hg38 chr19 859,664 863,641 3,978
ENST00000592860.3 hg38 chr19 859,664 863,450 3,787
ENST00000695942.1 hg19 chr19 859,453 863,450 3,998
ENST00000695943.1 hg19 chr19 859,453 863,450 3,998
ENST00000695944.1 hg19 chr19 859,664 863,448 3,785
ENST00000695945.1 hg19 chr19 859,664 863,449 3,786
ENST00000592860.3 hg19 chr19 859,664 863,450 3,787
ENST00000327726.11 hg19 chr19 859,664 863,641 3,978
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