PEBP1 phosphatidylethanolamine binding protein 1

Information
Symbol
PEBP1
Type
protein-coding
Description
phosphatidylethanolamine binding protein 1
Entrez Gene ID
5037
Genome
hg19
Position
chr12:118,573,929-118,583,389
Genome
hg38
Position
chr12:118,136,124-118,145,584
MIM
604591 OMIM
HGNC
HGNC:8630 HGNC
Ensembl
ENSG00000089220 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 2
Uncertain significance 0 8
Ranking
ClinVar
0
0
0
14
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 :
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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 HCNP
SYNONYM HCNPpp
SYNONYM HEL-210
SYNONYM HEL-S-34
SYNONYM HEL-S-96
SYNONYM PBP
SYNONYM PEBP
SYNONYM PEBP-1
SYNONYM RKIP
MIM 604591 OMIM
HGNC HGNC:8630 HGNC
Ensembl ENSG00000089220 Ensembl
AllianceGenome HGNC:8630
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000261313.3 hg38 chr12 118,136,124 118,145,584 9,461
ENST00000261313.3 hg19 chr12 118,573,929 118,583,389 9,461
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