CYP24A1 cytochrome P450 family 24 subfamily A member 1

Information
Symbol
CYP24A1
Type
protein-coding
Description
cytochrome P450 family 24 subfamily A member 1
Entrez Gene ID
1591
Genome
hg19
Position
chr20:52,769,985-52,790,525
Genome
hg38
Position
chr20:54,153,446-54,173,986
MIM
126065 OMIM
HGNC
HGNC:2602 HGNC
Ensembl
ENSG00000019186 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 48
Likely pathogenic 0 28
Benign 0 142
Likely benign 0 122
Conflicting classifications of pathogenicity 0 34
not provided 1 0
Uncertain significance 0 252
Ranking
ClinVar
0
0
108
442
10
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 CP24
SYNONYM CYP24
SYNONYM HCAI
SYNONYM HCINF1
SYNONYM P450-CC24
MIM 126065 OMIM
HGNC HGNC:2602 HGNC
Ensembl ENSG00000019186 Ensembl
AllianceGenome HGNC:2602
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000216862.8 hg38 chr20 54,153,446 54,173,986 20,541
ENST00000395955.7 hg38 chr20 54,153,962 54,173,649 19,688
ENST00000395954.3 hg38 chr20 54,154,713 54,171,953 17,241
ENST00000216862.8 hg19 chr20 52,769,985 52,790,525 20,541
ENST00000395955.7 hg19 chr20 52,770,501 52,790,188 19,688
ENST00000395954.3 hg19 chr20 52,771,252 52,788,492 17,241
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