CYP2R1 cytochrome P450 family 2 subfamily R member 1

Information
Symbol
CYP2R1
Type
protein-coding
Description
cytochrome P450 family 2 subfamily R member 1
Entrez Gene ID
120227
Genome
hg19
Position
chr11:14,898,986-14,913,777
Genome
hg38
Position
chr11:14,877,440-14,892,231
MIM
608713 OMIM
HGNC
HGNC:20580 HGNC
Ensembl
ENSG00000186104 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 32
Likely pathogenic 0 6
Benign 0 16
Likely benign 0 120
association 0 2
Conflicting classifications of pathogenicity 0 4
Uncertain significance 0 134
Ranking
ClinVar
0
0
56
230
6
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
MIM 608713 OMIM
HGNC HGNC:20580 HGNC
Ensembl ENSG00000186104 Ensembl
AllianceGenome HGNC:20580
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000532378.5 hg38 chr11 14,878,038 14,891,651 13,614
ENST00000334636.10 hg38 chr11 14,877,440 14,892,231 14,792
ENST00000334636.10 hg19 chr11 14,898,986 14,913,777 14,792
ENST00000532378.5 hg19 chr11 14,899,584 14,913,197 13,614
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