PNPLA2 patatin like phospholipase domain containing 2

Information
Symbol
PNPLA2
Type
protein-coding
Description
patatin like phospholipase domain containing 2
Entrez Gene ID
57104
Genome
hg19
Position
chr11:818,914-825,573
Genome
hg38
Position
chr11:818,914-825,573
MIM
609059 OMIM
HGNC
HGNC:30802 HGNC
Ensembl
ENSG00000177666 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 3 46
Likely pathogenic 0 14
Benign 0 54
Likely benign 0 414
Conflicting classifications of pathogenicity 0 60
Uncertain significance 0 564
Ranking
ClinVar
0
0
196
860
18
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 1110001C14Rik
SYNONYM ATGL
SYNONYM FP17548
SYNONYM PEDF-R
SYNONYM TTS-2.2
SYNONYM TTS2
SYNONYM iPLA2zeta
MIM 609059 OMIM
HGNC HGNC:30802 HGNC
Ensembl ENSG00000177666 Ensembl
AllianceGenome HGNC:30802
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000336615.9 hg38 chr11 818,914 825,573 6,660
ENST00000336615.9 hg19 chr11 818,914 825,573 6,660
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