CFD complement factor D
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 | |
---|---|
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0 |
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0 |
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52 |
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428 |
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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
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Target data | : |
MGeND data only
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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MGeND data only
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
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Target data | : |
MGeND data only
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Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | ADIPSIN |
SYNONYM | ADN |
SYNONYM | DF |
SYNONYM | PFD |
MIM | 134350 OMIM |
HGNC | HGNC:2771 HGNC |
Ensembl | ENSG00000197766 Ensembl |
AllianceGenome | HGNC:2771 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
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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