CFHR4 complement factor H related 4

Information
Symbol
CFHR4
Type
protein-coding
Description
complement factor H related 4
Entrez Gene ID
10877
Genome
hg19
Position
chr1:196,857,182-196,887,763
Genome
hg38
Position
chr1:196,888,052-196,918,633
MIM
605337 OMIM
HGNC
HGNC:16979 HGNC
Ensembl
ENSG00000134365 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 50
Likely benign 0 28
Conflicting classifications of pathogenicity 0 8
Uncertain significance 0 84
Ranking
ClinVar
0
0
14
142
4
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 CFHL4
SYNONYM FHR-4
SYNONYM FHR4
MIM 605337 OMIM
HGNC HGNC:16979 HGNC
Ensembl ENSG00000134365 Ensembl
AllianceGenome HGNC:16979
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000608469.6 hg38 chr1 196,888,052 196,918,633 30,582
ENST00000251424.8 hg38 chr1 196,888,082 196,918,633 30,552
ENST00000367416.6 hg38 chr1 196,888,014 196,918,713 30,700
ENST00000367416.6 hg19 chr1 196,857,144 196,887,843 30,700
ENST00000608469.6 hg19 chr1 196,857,182 196,887,763 30,582
ENST00000251424.8 hg19 chr1 196,857,212 196,887,763 30,552
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