OTC ornithine transcarbamylase

Information
Symbol
OTC
Type
protein-coding
Description
ornithine transcarbamylase
Entrez Gene ID
5009
Genome
hg19
Position
chrX:38,186,851-38,282,161
Genome
hg38
Position
chrX:38,327,598-38,422,908
MIM
300461 OMIM
HGNC
HGNC:8512 HGNC
Ensembl
ENSG00000036473 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 14 678
Likely pathogenic 0 200
Benign 0 126
Likely benign 0 464
Conflicting classifications of pathogenicity 0 56
not provided 6 0
Uncertain significance 0 258
Ranking
ClinVar
0
0
216
996
468
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 OCTD
SYNONYM OTC1
SYNONYM OTCD
SYNONYM OTCase
MIM 300461 OMIM
HGNC HGNC:8512 HGNC
Ensembl ENSG00000036473 Ensembl
AllianceGenome HGNC:8512
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000039007.5 hg38 chrX 38,352,604 38,421,446 68,843
ENST00000713759.1 hg38 chrX 38,327,682 38,422,572 94,891
ENST00000713758.1 hg38 chrX 38,327,598 38,422,908 95,311
ENST00000713758.1 hg19 chrX 38,186,851 38,282,161 95,311
ENST00000713759.1 hg19 chrX 38,186,935 38,281,825 94,891
ENST00000039007.5 hg19 chrX 38,211,857 38,280,699 68,843
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