PLVAP plasmalemma vesicle associated protein

Information
Symbol
PLVAP
Type
protein-coding
Description
plasmalemma vesicle associated protein
Entrez Gene ID
83483
Genome
hg19
Position
chr19:17,462,264-17,488,151
Genome
hg38
Position
chr19:17,351,455-17,377,342
MIM
607647 OMIM
HGNC
HGNC:13635 HGNC
Ensembl
ENSG00000130300 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 10
Likely pathogenic 0 4
Benign 0 28
Likely benign 0 174
Uncertain significance 0 140
Ranking
ClinVar
0
0
54
286
6
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 DIAR10
SYNONYM FELS
SYNONYM PV-1
SYNONYM PV1
SYNONYM gp68
MIM 607647 OMIM
HGNC HGNC:13635 HGNC
Ensembl ENSG00000130300 Ensembl
AllianceGenome HGNC:13635
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000252590.9 hg38 chr19 17,351,455 17,377,342 25,888
ENST00000252590.9 hg19 chr19 17,462,264 17,488,151 25,888
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