CYP11B2 cytochrome P450 family 11 subfamily B member 2

Information
Symbol
CYP11B2
Type
protein-coding
Description
cytochrome P450 family 11 subfamily B member 2
Entrez Gene ID
1585
Genome
hg19
Position
chr8:143,991,975-143,999,259
Genome
hg38
Position
chr8:142,910,559-142,917,843
MIM
124080 OMIM
HGNC
HGNC:2592 HGNC
Ensembl
ENSG00000179142 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 134
Likely pathogenic 0 50
Benign 0 128
Likely benign 0 760
Conflicting classifications of pathogenicity 0 62
Uncertain significance 0 172
Ranking
ClinVar
0
0
142
1,036
26
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 ALDOS
SYNONYM CPN2
SYNONYM CYP11B
SYNONYM CYP11BL
SYNONYM CYPXIB2
SYNONYM P-450C18
SYNONYM P450C18
SYNONYM P450aldo
MIM 124080 OMIM
HGNC HGNC:2592 HGNC
Ensembl ENSG00000179142 Ensembl
AllianceGenome HGNC:2592
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000323110.2 hg38 chr8 142,910,559 142,917,843 7,285
ENST00000323110.2 hg19 chr8 143,991,975 143,999,259 7,285
Genome browser