ATG4D autophagy related 4D cysteine peptidase

Information
Symbol
ATG4D
Type
protein-coding
Description
autophagy related 4D cysteine peptidase
Entrez Gene ID
84971
Genome
hg19
Position
chr19:10,654,580-10,664,094
Genome
hg38
Position
chr19:10,543,904-10,553,418
MIM
611340 OMIM
HGNC
HGNC:20789 HGNC
Ensembl
ENSG00000130734 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Benign 0 4
Likely benign 0 8
Uncertain significance 0 68
Ranking
ClinVar
0
0
2
78
2
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
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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 :
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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 :
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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 APG4-D
SYNONYM APG4D
SYNONYM AUTL4
SYNONYM HsAPG4D
MIM 611340 OMIM
HGNC HGNC:20789 HGNC
Ensembl ENSG00000130734 Ensembl
AllianceGenome HGNC:20789
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000309469.9 hg38 chr19 10,543,904 10,553,418 9,515
ENST00000309469.9 hg19 chr19 10,654,580 10,664,094 9,515
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