C1R complement C1r

Information
Symbol
C1R
Type
protein-coding
Description
complement C1r
Entrez Gene ID
715
Genome
hg19
Position
chr12:7,187,836-7,245,131
Genome
hg38
Position
chr12:7,080,421-7,091,892
MIM
613785 OMIM
HGNC
HGNC:1246 HGNC
Ensembl
ENSG00000159403 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 15
Likely pathogenic 0 4
Benign 0 13
Likely benign 0 25
Conflicting classifications of pathogenicity 0 1
Uncertain significance 0 26
Ranking
ClinVar
0
0
7
73
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 :
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 EDS8
SYNONYM EDSPD1
MIM 613785 OMIM
HGNC HGNC:1246 HGNC
Ensembl ENSG00000159403 Ensembl
AllianceGenome HGNC:1246
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000536053.6 hg38 chr12 7,080,421 7,091,892 11,472
ENST00000535233.6 hg38 chr12 7,080,421 7,092,472 12,052
ENST00000647956.2 hg38 chr12 7,080,219 7,092,445 12,227
ENST00000602298.1 hg19 chr12 7,239,877 7,240,440 564
ENST00000542285.1 hg19 chr12 7,187,836 7,245,131 57,296
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