ESD esterase D

Information
Symbol
ESD
Type
protein-coding
Description
esterase D
Entrez Gene ID
2098
Genome
hg19
Position
chr13:47,345,391-47,371,296
Genome
hg38
Position
chr13:46,771,256-46,797,161
MIM
133280 OMIM
HGNC
HGNC:3465 HGNC
Ensembl
ENSG00000139684 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 2
Uncertain significance 0 24
Ranking
ClinVar
0
0
2
28
0
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 :
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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 FGH
MIM 133280 OMIM
HGNC HGNC:3465 HGNC
Ensembl ENSG00000139684 Ensembl
AllianceGenome HGNC:3465
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000471867.3 hg38 chr13 46,775,386 46,797,420 22,035
ENST00000378720.8 hg38 chr13 46,771,256 46,797,161 25,906
ENST00000378697.5 hg38 chr13 46,771,335 46,797,133 25,799
ENST00000378720.8 hg19 chr13 47,345,391 47,371,296 25,906
ENST00000378697.5 hg19 chr13 47,345,470 47,371,268 25,799
ENST00000471867.3 hg19 chr13 47,349,521 47,371,555 22,035
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