PLBD1 phospholipase B domain containing 1

Information
Symbol
PLBD1
Type
protein-coding
Description
phospholipase B domain containing 1
Entrez Gene ID
79887
Genome
hg19
Position
chr12:14,656,595-14,720,817
Genome
hg38
Position
chr12:14,503,661-14,567,883
MIM
618486 OMIM
HGNC
HGNC:26215 HGNC
Ensembl
ENSG00000121316 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 8
Uncertain significance 0 46
Ranking
ClinVar
0
0
0
54
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
MIM 618486 OMIM
HGNC HGNC:26215 HGNC
Ensembl ENSG00000121316 Ensembl
AllianceGenome HGNC:26215
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000240617.10 hg38 chr12 14,503,661 14,567,883 64,223
ENST00000240617.10 hg19 chr12 14,656,595 14,720,817 64,223
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