PAFAH1B3 platelet activating factor acetylhydrolase 1b catalytic subunit 3

Information
Symbol
PAFAH1B3
Type
protein-coding
Description
platelet activating factor acetylhydrolase 1b catalytic subunit 3
Entrez Gene ID
5050
Genome
hg19
Position
chr19:42,801,187-42,806,776
Genome
hg38
Position
chr19:42,297,035-42,302,624
MIM
603074 OMIM
HGNC
HGNC:8576 HGNC
Ensembl
ENSG00000079462 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
association 0 2
not provided 1 0
Uncertain significance 0 32
Ranking
ClinVar
0
0
0
34
2
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 PAFAHG
MIM 603074 OMIM
HGNC HGNC:8576 HGNC
Ensembl ENSG00000079462 Ensembl
AllianceGenome HGNC:8576
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000538771.5 hg38 chr19 42,297,033 42,302,777 5,745
ENST00000262890.8 hg38 chr19 42,297,035 42,302,624 5,590
ENST00000538771.5 hg19 chr19 42,801,185 42,806,929 5,745
ENST00000262890.8 hg19 chr19 42,801,187 42,806,776 5,590
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