CYP27A1 cytochrome P450 family 27 subfamily A member 1

Information
Symbol
CYP27A1
Type
protein-coding
Description
cytochrome P450 family 27 subfamily A member 1
Entrez Gene ID
1593
Genome
hg19
Position
chr2:219,646,870-219,680,016
Genome
hg38
Position
chr2:218,782,147-218,815,293
MIM
606530 OMIM
HGNC
HGNC:2605 HGNC
Ensembl
ENSG00000135929 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 8 256
Likely pathogenic 0 178
Benign 0 52
Likely benign 0 852
Conflicting classifications of pathogenicity 0 156
not provided 0 2
Uncertain significance 0 716
Ranking
ClinVar
0
0
440
1,478
34
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 CP27
SYNONYM CTX
SYNONYM CYP27
MIM 606530 OMIM
HGNC HGNC:2605 HGNC
Ensembl ENSG00000135929 Ensembl
AllianceGenome HGNC:2605
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000258415.9 hg38 chr2 218,782,147 218,815,293 33,147
ENST00000258415.9 hg19 chr2 219,646,870 219,680,016 33,147
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