PNPLA5 patatin like phospholipase domain containing 5

Information
Symbol
PNPLA5
Type
protein-coding
Description
patatin like phospholipase domain containing 5
Entrez Gene ID
150379
Genome
hg19
Position
chr22:44,275,558-44,287,893
Genome
hg38
Position
chr22:43,879,678-43,892,013
MIM
611589 OMIM
HGNC
HGNC:24888 HGNC
Ensembl
ENSG00000100341 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 26
Likely benign 0 8
not provided 1 0
Uncertain significance 0 56
Ranking
ClinVar
0
0
0
90
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 GS2L
SYNONYM dJ388M5
SYNONYM dJ388M5.4
MIM 611589 OMIM
HGNC HGNC:24888 HGNC
Ensembl ENSG00000100341 Ensembl
AllianceGenome HGNC:24888
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000381198.7 hg38 chr22 43,879,876 43,892,013 12,138
ENST00000216177.9 hg38 chr22 43,879,678 43,892,013 12,336
ENST00000216177.9 hg19 chr22 44,275,558 44,287,893 12,336
ENST00000381198.7 hg19 chr22 44,275,756 44,287,893 12,138
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