KEL Kell metallo-endopeptidase (Kell blood group)

Information
Symbol
KEL
Type
protein-coding
Description
Kell metallo-endopeptidase (Kell blood group)
Entrez Gene ID
3792
Genome
hg19
Position
chr7:142,638,201-142,659,450
Genome
hg38
Position
chr7:142,941,114-142,962,363
MIM
613883 OMIM
HGNC
HGNC:6308 HGNC
Ensembl
ENSG00000197993 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Benign 0 14
Likely benign 0 18
Affects 0 8
association 0 4
Uncertain significance 0 80
Ranking
ClinVar
0
0
2
106
20
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 CD238
SYNONYM ECE3
SYNONYM Kell
MIM 613883 OMIM
HGNC HGNC:6308 HGNC
Ensembl ENSG00000197993 Ensembl
AllianceGenome HGNC:6308
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000355265.7 hg38 chr7 142,941,114 142,962,363 21,250
ENST00000355265.7 hg19 chr7 142,638,201 142,659,450 21,250
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