CFHR1 complement factor H related 1

Information
Symbol
CFHR1
Type
protein-coding
Description
complement factor H related 1
Entrez Gene ID
3078
Genome
hg19
Position
chr1:196,788,861-196,801,319
Genome
hg38
Position
chr1:196,819,731-196,832,189
MIM
134371 OMIM
HGNC
HGNC:4888 HGNC
Ensembl
ENSG00000244414 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 4
Benign 0 84
Likely benign 0 20
Conflicting classifications of pathogenicity 0 8
Uncertain significance 0 50
Ranking
ClinVar
0
0
4
154
0
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 CFHL
SYNONYM CFHL1
SYNONYM CFHL1P
SYNONYM CFHR1P
SYNONYM FHL-1
SYNONYM FHR-1
SYNONYM FHR1
SYNONYM H36
SYNONYM H36-1
SYNONYM H36-2
SYNONYM HFL1
SYNONYM HFL2
MIM 134371 OMIM
HGNC HGNC:4888 HGNC
Ensembl ENSG00000244414 Ensembl
AllianceGenome HGNC:4888
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000367424.4 hg38 chr1 196,819,781 196,832,189 12,409
ENST00000699454.1 hg38 chr1 196,819,734 196,832,381 12,648
ENST00000699455.1 hg38 chr1 196,819,756 196,832,189 12,434
ENST00000320493.10 hg38 chr1 196,819,731 196,832,189 12,459
ENST00000320493.10 hg19 chr1 196,788,861 196,801,319 12,459
ENST00000699454.1 hg19 chr1 196,788,864 196,801,511 12,648
ENST00000699455.1 hg19 chr1 196,788,886 196,801,319 12,434
ENST00000367424.4 hg19 chr1 196,788,911 196,801,319 12,409
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