PPT2-EGFL8 PPT2-EGFL8 readthrough (NMD candidate)

Information
Symbol
PPT2-EGFL8
Type
ncRNA
Description
PPT2-EGFL8 readthrough (NMD candidate)
Entrez Gene ID
100532746
Genome
hg19
Position
chr6:32,121,999-32,139,755
Genome
hg38
Position
chr6:32,154,222-32,171,978
HGNC
HGNC:48343 HGNC
Ensembl
ENSG00000258388 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 6
not provided 5 0
Uncertain significance 0 70
Ranking
ClinVar
0
0
0
76
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 PPT-2
SYNONYM PPT2
HGNC HGNC:48343 HGNC
Ensembl ENSG00000258388 Ensembl
AllianceGenome HGNC:48343
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000422437.5 hg38 chr6 32,154,222 32,171,978 17,757
ENST00000422437.5 hg19 chr6 32,121,999 32,139,755 17,757
Genome browser