ELANE elastase, neutrophil expressed

Information
Symbol
ELANE
Type
protein-coding
Description
elastase, neutrophil expressed
Entrez Gene ID
1991
Genome
hg19
Position
chr19:851,014-856,247
Genome
hg38
Position
chr19:851,014-856,247
MIM
130130 OMIM
HGNC
HGNC:3309 HGNC
Ensembl
ENSG00000197561 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 34 90
Likely pathogenic 0 86
Benign 0 128
Likely benign 0 276
Conflicting classifications of pathogenicity 0 60
no classification for the single variant 0 4
not provided 0 4
Uncertain significance 0 466
Ranking
ClinVar
0
0
190
790
14
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 ELA2
SYNONYM GE
SYNONYM HLE
SYNONYM HNE
SYNONYM NE
SYNONYM PMN-E
SYNONYM SCN1
MIM 130130 OMIM
HGNC HGNC:3309 HGNC
Ensembl ENSG00000197561 Ensembl
AllianceGenome HGNC:3309
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000590230.5 hg38 chr19 851,014 856,247 5,234
ENST00000263621.2 hg38 chr19 852,303 856,243 3,941
ENST00000590230.5 hg19 chr19 851,014 856,247 5,234
ENST00000263621.2 hg19 chr19 852,303 856,243 3,941
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