PLTP phospholipid transfer protein

Information
Symbol
PLTP
Type
protein-coding
Description
phospholipid transfer protein
Entrez Gene ID
5360
Genome
hg19
Position
chr20:44,527,402-44,540,686
Genome
hg38
Position
chr20:45,898,763-45,912,047
MIM
172425 OMIM
HGNC
HGNC:9093 HGNC
Ensembl
ENSG00000100979 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 24
Likely benign 0 78
not provided 1 0
Uncertain significance 0 150
Ranking
ClinVar
0
0
18
234
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 BPIFE
SYNONYM HDLCQ9
MIM 172425 OMIM
HGNC HGNC:9093 HGNC
Ensembl ENSG00000100979 Ensembl
AllianceGenome HGNC:9093
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000420868.2 hg38 chr20 45,898,806 45,912,155 13,350
ENST00000354050.8 hg38 chr20 45,898,621 45,912,152 13,532
ENST00000477313.5 hg38 chr20 45,898,763 45,912,047 13,285
ENST00000372431.8 hg38 chr20 45,898,622 45,912,155 13,534
ENST00000372420.5 hg38 chr20 45,898,760 45,910,937 12,178
ENST00000354050.8 hg19 chr20 44,527,260 44,540,791 13,532
ENST00000372431.8 hg19 chr20 44,527,261 44,540,794 13,534
ENST00000372420.5 hg19 chr20 44,527,399 44,539,576 12,178
ENST00000477313.5 hg19 chr20 44,527,402 44,540,686 13,285
ENST00000420868.2 hg19 chr20 44,527,445 44,540,794 13,350
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