CYP21A2 cytochrome P450 family 21 subfamily A member 2

Information
Symbol
CYP21A2
Type
protein-coding
Description
cytochrome P450 family 21 subfamily A member 2
Entrez Gene ID
1589
Genome
hg19
Position
chr6:32,006,192-32,009,421
Genome
hg38
Position
chr6:32,038,415-32,041,644
MIM
613815 OMIM
HGNC
HGNC:2600 HGNC
Ensembl
ENSG00000231852 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 20 120
Likely pathogenic 0 88
Benign 0 102
Likely benign 0 56
Conflicting classifications of pathogenicity 0 46
no classification for the single variant 0 2
not provided 6 6
Uncertain significance 0 154
Ranking
ClinVar
0
0
96
260
138
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 CA21H
SYNONYM CAH1
SYNONYM CPS1
SYNONYM CYP21
SYNONYM CYP21B
SYNONYM P450c21B
MIM 613815 OMIM
HGNC HGNC:2600 HGNC
Ensembl ENSG00000231852 Ensembl
AllianceGenome HGNC:2600
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000644719.2 hg38 chr6 32,038,415 32,041,644 3,230
ENST00000435122.3 hg38 chr6 32,038,415 32,041,642 3,228
ENST00000435122.3 hg19 chr6 32,006,192 32,009,419 3,228
ENST00000644719.2 hg19 chr6 32,006,192 32,009,421 3,230
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