DERL3 derlin 3

Information
Symbol
DERL3
Type
protein-coding
Description
derlin 3
Entrez Gene ID
91319
Genome
hg19
Position
chr22:24,176,690-24,181,193
Genome
hg38
Position
chr22:23,834,503-23,839,006
MIM
610305 OMIM
HGNC
HGNC:14236 HGNC
Ensembl
ENSG00000099958 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 6
not provided 5 0
Uncertain significance 1 24
Ranking
ClinVar
0
0
0
32
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
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
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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 C22orf14
SYNONYM IZP6
SYNONYM LLN2
SYNONYM derlin-3
MIM 610305 OMIM
HGNC HGNC:14236 HGNC
Ensembl ENSG00000099958 Ensembl
AllianceGenome HGNC:14236
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000476077.1 hg38 chr22 23,836,734 23,839,012 2,279
ENST00000318109.12 hg38 chr22 23,834,503 23,839,006 4,504
ENST00000406855.7 hg38 chr22 23,834,503 23,839,006 4,504
ENST00000404056.1 hg38 chr22 23,834,503 23,839,006 4,504
ENST00000318109.12 hg19 chr22 24,176,690 24,181,193 4,504
ENST00000404056.1 hg19 chr22 24,176,690 24,181,193 4,504
ENST00000406855.7 hg19 chr22 24,176,690 24,181,193 4,504
ENST00000476077.1 hg19 chr22 24,178,921 24,181,199 2,279
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