CYP19A1 cytochrome P450 family 19 subfamily A member 1

Information
Symbol
CYP19A1
Type
protein-coding
Description
cytochrome P450 family 19 subfamily A member 1
Entrez Gene ID
1588
Genome
hg19
Position
chr15:51,500,254-51,630,793
Genome
hg38
Position
chr15:51,208,057-51,338,596
MIM
107910 OMIM
HGNC
HGNC:2594 HGNC
Ensembl
ENSG00000137869 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 90
Likely pathogenic 0 24
Benign 0 104
Likely benign 0 550
association 0 2
Conflicting classifications of pathogenicity 0 26
drug response 0 2
Uncertain significance 0 162
Ranking
ClinVar
0
0
50
836
36
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
SYNONYM ARO
SYNONYM ARO1
SYNONYM CPV1
SYNONYM CYAR
SYNONYM CYP19
SYNONYM CYPXIX
SYNONYM P-450AROM
MIM 107910 OMIM
HGNC HGNC:2594 HGNC
Ensembl ENSG00000137869 Ensembl
AllianceGenome HGNC:2594
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000405913.7 hg38 chr15 51,221,379 51,243,011 21,633
ENST00000559878.5 hg38 chr15 51,210,514 51,243,064 32,551
ENST00000396402.6 hg38 chr15 51,208,057 51,338,596 130,540
ENST00000396404.8 hg38 chr15 51,210,181 51,338,596 128,416
ENST00000557858.5 hg38 chr15 51,222,264 51,338,575 116,312
ENST00000396402.6 hg19 chr15 51,500,254 51,630,793 130,540
ENST00000396404.8 hg19 chr15 51,502,378 51,630,793 128,416
ENST00000405913.7 hg19 chr15 51,513,576 51,535,208 21,633
ENST00000557858.5 hg19 chr15 51,514,461 51,630,772 116,312
ENST00000559878.5 hg19 chr15 51,502,711 51,535,261 32,551
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