PLBD2 phospholipase B domain containing 2

Information
Symbol
PLBD2
Type
protein-coding
Description
phospholipase B domain containing 2
Entrez Gene ID
196463
Genome
hg19
Position
chr12:113,796,392-113,829,434
Genome
hg38
Position
chr12:113,358,587-113,391,629
MIM
620097 OMIM
HGNC
HGNC:27283 HGNC
Ensembl
ENSG00000151176 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 60
Ranking
ClinVar
0
0
0
62
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
[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 P76
MIM 620097 OMIM
HGNC HGNC:27283 HGNC
Ensembl ENSG00000151176 Ensembl
AllianceGenome HGNC:27283
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000280800.5 hg38 chr12 113,358,587 113,391,629 33,043
ENST00000545182.6 hg38 chr12 113,358,566 113,389,238 30,673
ENST00000545182.6 hg19 chr12 113,796,371 113,827,043 30,673
ENST00000280800.5 hg19 chr12 113,796,392 113,829,434 33,043
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