AGBL5 AGBL carboxypeptidase 5

Information
Symbol
AGBL5
Type
protein-coding
Description
AGBL carboxypeptidase 5
Entrez Gene ID
60509
Genome
hg19
Position
chr2:27,274,536-27,293,486
Genome
hg38
Position
chr2:27,051,668-27,070,618
MIM
615900 OMIM
HGNC
HGNC:26147 HGNC
Ensembl
ENSG00000084693 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 44
Likely pathogenic 0 26
Benign 0 40
Likely benign 0 450
Conflicting classifications of pathogenicity 0 12
Uncertain significance 0 744
Ranking
ClinVar
0
0
116
1,170
10
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 CCP5
SYNONYM RP75
MIM 615900 OMIM
HGNC HGNC:26147 HGNC
Ensembl ENSG00000084693 Ensembl
AllianceGenome HGNC:26147
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000323064.12 hg38 chr2 27,051,678 27,059,535 7,858
ENST00000360131.5 hg38 chr2 27,051,668 27,070,618 18,951
ENST00000360131.5 hg19 chr2 27,274,536 27,293,486 18,951
ENST00000323064.12 hg19 chr2 27,274,546 27,282,403 7,858
Genome browser