PPFIA3 PTPRF interacting protein alpha 3

Information
Symbol
PPFIA3
Type
protein-coding
Description
PTPRF interacting protein alpha 3
Entrez Gene ID
8541
Genome
hg19
Position
chr19:49,622,801-49,654,283
Genome
hg38
Position
chr19:49,119,544-49,151,026
MIM
603144 OMIM
HGNC
HGNC:9247 HGNC
Ensembl
ENSG00000177380 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Likely pathogenic 0 26
Benign 0 2
Likely benign 0 2
Uncertain significance 0 68
Ranking
ClinVar
0
0
0
84
20
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 :
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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 LPNA3
MIM 603144 OMIM
HGNC HGNC:9247 HGNC
Ensembl ENSG00000177380 Ensembl
AllianceGenome HGNC:9247
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000602351.5 hg38 chr19 49,127,874 49,151,026 23,153
ENST00000334186.9 hg38 chr19 49,119,544 49,151,026 31,483
ENST00000334186.9 hg19 chr19 49,622,801 49,654,283 31,483
ENST00000602351.5 hg19 chr19 49,631,131 49,654,283 23,153
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