AP5B1 adaptor related protein complex 5 subunit beta 1

Information
Symbol
AP5B1
Type
protein-coding
Description
adaptor related protein complex 5 subunit beta 1
Entrez Gene ID
91056
Genome
hg19
Position
chr11:65,541,369-65,548,447
Genome
hg38
Position
chr11:65,773,898-65,780,976
MIM
614367 OMIM
HGNC
HGNC:25104 HGNC
Ensembl
ENSG00000254470 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 10
Uncertain significance 0 102
Ranking
ClinVar
0
0
2
110
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
[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 AP-5
SYNONYM PP1030
MIM 614367 OMIM
HGNC HGNC:25104 HGNC
Ensembl ENSG00000254470 Ensembl
AllianceGenome HGNC:25104
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000532090.3 hg38 chr11 65,773,898 65,780,976 7,079
ENST00000532090.3 hg19 chr11 65,541,369 65,548,447 7,079
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