PPFIA1 PTPRF interacting protein alpha 1

Information
Symbol
PPFIA1
Type
protein-coding
Description
PTPRF interacting protein alpha 1
Entrez Gene ID
8500
Genome
hg19
Position
chr11:70,116,796-70,230,502
Genome
hg38
Position
chr11:70,270,690-70,384,396
MIM
611054 OMIM
HGNC
HGNC:9245 HGNC
Ensembl
ENSG00000131626 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 22
Likely benign 0 66
Uncertain significance 0 140
Ranking
ClinVar
0
0
0
228
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 LIP.1
SYNONYM LIP1
SYNONYM LIPRIN
MIM 611054 OMIM
HGNC HGNC:9245 HGNC
Ensembl ENSG00000131626 Ensembl
AllianceGenome HGNC:9245
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000389547.7 hg38 chr11 70,270,717 70,378,580 107,864
ENST00000253925.12 hg38 chr11 70,270,690 70,384,396 113,707
ENST00000253925.12 hg19 chr11 70,116,796 70,230,502 113,707
ENST00000389547.7 hg19 chr11 70,116,823 70,224,686 107,864
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