AP5Z1 adaptor related protein complex 5 subunit zeta 1

Information
Symbol
AP5Z1
Type
protein-coding
Description
adaptor related protein complex 5 subunit zeta 1
Entrez Gene ID
9907
Genome
hg19
Position
chr7:4,815,254-4,834,028
Genome
hg38
Position
chr7:4,775,623-4,794,397
MIM
613653 OMIM
HGNC
HGNC:22197 HGNC
Ensembl
ENSG00000242802 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 54
Likely pathogenic 0 42
Benign 0 226
Likely benign 0 644
Conflicting classifications of pathogenicity 0 182
Uncertain significance 0 978
Ranking
ClinVar
0
0
324
1,552
4
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 KIAA0415
SYNONYM SPG48
SYNONYM zeta
MIM 613653 OMIM
HGNC HGNC:22197 HGNC
Ensembl ENSG00000242802 Ensembl
AllianceGenome HGNC:22197
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000649063.2 hg38 chr7 4,775,623 4,794,397 18,775
ENST00000649063.2 hg19 chr7 4,815,254 4,834,028 18,775
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