CYP27C1 cytochrome P450 family 27 subfamily C member 1

Information
Symbol
CYP27C1
Type
protein-coding
Description
cytochrome P450 family 27 subfamily C member 1
Entrez Gene ID
339761
Genome
hg19
Position
chr2:127,941,408-127,977,875
Genome
hg38
Position
chr2:127,183,832-127,220,299
MIM
620605 OMIM
HGNC
HGNC:33480 HGNC
Ensembl
ENSG00000186684 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 4
Uncertain significance 0 50
Ranking
ClinVar
0
0
0
56
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 :
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 620605 OMIM
HGNC HGNC:33480 HGNC
Ensembl ENSG00000186684 Ensembl
AllianceGenome HGNC:33480
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000335247.11 hg38 chr2 127,184,120 127,205,767 21,648
ENST00000664447.2 hg38 chr2 127,183,832 127,220,299 36,468
ENST00000409327.2 hg38 chr2 127,186,410 127,220,313 33,904
ENST00000664447.2 hg19 chr2 127,941,408 127,977,875 36,468
ENST00000335247.11 hg19 chr2 127,941,696 127,963,343 21,648
ENST00000409327.2 hg19 chr2 127,943,986 127,977,889 33,904
Genome browser