ECEL1 endothelin converting enzyme like 1

Information
Symbol
ECEL1
Type
protein-coding
Description
endothelin converting enzyme like 1
Entrez Gene ID
9427
Genome
hg19
Position
chr2:233,344,537-233,352,544
Genome
hg38
Position
chr2:232,479,827-232,487,834
MIM
605896 OMIM
HGNC
HGNC:3147 HGNC
Ensembl
ENSG00000171551 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 66
Likely pathogenic 0 33
Benign 0 74
Likely benign 0 100
Conflicting classifications of pathogenicity 0 22
Uncertain significance 0 122
Ranking
ClinVar
0
0
68
277
30
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 :
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 DA5D
SYNONYM DINE
SYNONYM ECEX
SYNONYM XCE
MIM 605896 OMIM
HGNC HGNC:3147 HGNC
Ensembl ENSG00000171551 Ensembl
AllianceGenome HGNC:3147
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000409941.1 hg38 chr2 232,480,153 232,486,653 6,501
ENST00000304546.6 hg38 chr2 232,479,827 232,487,834 8,008
ENST00000304546.6 hg19 chr2 233,344,537 233,352,544 8,008
ENST00000409941.1 hg19 chr2 233,344,863 233,351,363 6,501
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