CFHR5 complement factor H related 5

Information
Symbol
CFHR5
Type
protein-coding
Description
complement factor H related 5
Entrez Gene ID
81494
Genome
hg19
Position
chr1:196,946,686-196,978,808
Genome
hg38
Position
chr1:196,977,556-197,009,678
MIM
608593 OMIM
HGNC
HGNC:24668 HGNC
Ensembl
ENSG00000134389 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 80
Likely benign 0 76
Conflicting classifications of pathogenicity 0 50
not provided 0 2
Uncertain significance 0 246
Ranking
ClinVar
0
0
82
274
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
[No Data.]
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 CFHL5
SYNONYM CFHR5D
SYNONYM FHR-5
SYNONYM FHR5
MIM 608593 OMIM
HGNC HGNC:24668 HGNC
Ensembl ENSG00000134389 Ensembl
AllianceGenome HGNC:24668
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000256785.5 hg38 chr1 196,977,556 197,009,678 32,123
ENST00000699468.1 hg38 chr1 196,977,559 197,009,278 31,720
ENST00000699466.1 hg38 chr1 196,975,010 197,009,278 34,269
ENST00000699466.1 hg19 chr1 196,944,140 196,978,408 34,269
ENST00000256785.5 hg19 chr1 196,946,686 196,978,808 32,123
ENST00000699468.1 hg19 chr1 196,946,689 196,978,408 31,720
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