BCHE butyrylcholinesterase

Information
Symbol
BCHE
Type
protein-coding
Description
butyrylcholinesterase
Entrez Gene ID
590
Genome
hg19
Position
chr3:165,490,692-165,555,211
Genome
hg38
Position
chr3:165,772,904-165,837,423
MIM
177400 OMIM
HGNC
HGNC:983 HGNC
Ensembl
ENSG00000114200 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 26
Likely pathogenic 1 88
Benign 0 8
Likely benign 0 20
Conflicting classifications of pathogenicity 0 30
drug response 0 2
no classification for the single variant 0 2
Uncertain significance 0 164
Ranking
ClinVar
0
0
34
258
4
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 BCHED
SYNONYM CHE1
SYNONYM CHE2
SYNONYM E1
MIM 177400 OMIM
HGNC HGNC:983 HGNC
Ensembl ENSG00000114200 Ensembl
AllianceGenome HGNC:983
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000264381.8 hg38 chr3 165,772,904 165,837,423 64,520
ENST00000264381.8 hg19 chr3 165,490,692 165,555,211 64,520
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