PNPLA3 patatin like phospholipase domain containing 3

Information
Symbol
PNPLA3
Type
protein-coding
Description
patatin like phospholipase domain containing 3
Entrez Gene ID
80339
Genome
hg19
Position
chr22:44,319,685-44,343,462
Genome
hg38
Position
chr22:43,923,805-43,947,582
MIM
609567 OMIM
HGNC
HGNC:18590 HGNC
Ensembl
ENSG00000100344 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 30
Likely benign 0 46
Conflicting classifications of pathogenicity 0 2
Conflicting classifications of pathogenicity; risk factor 0 2
not provided 1 0
Uncertain significance 0 150
Ranking
ClinVar
0
0
20
202
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 :
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 ADPN
SYNONYM C22orf20
SYNONYM iPLA(2)epsilon
MIM 609567 OMIM
HGNC HGNC:18590 HGNC
Ensembl ENSG00000100344 Ensembl
AllianceGenome HGNC:18590
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000423180.2 hg38 chr22 43,923,803 43,947,061 23,259
ENST00000216180.8 hg38 chr22 43,923,805 43,947,582 23,778
ENST00000423180.2 hg19 chr22 44,319,683 44,342,941 23,259
ENST00000216180.8 hg19 chr22 44,319,685 44,343,462 23,778
Genome browser