PITPNA phosphatidylinositol transfer protein alpha

Information
Symbol
PITPNA
Type
protein-coding
Description
phosphatidylinositol transfer protein alpha
Entrez Gene ID
5306
Genome
hg19
Position
chr17:1,421,012-1,466,086
Genome
hg38
Position
chr17:1,517,718-1,562,792
MIM
600174 OMIM
HGNC
HGNC:9001 HGNC
Ensembl
ENSG00000174238 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 10
Ranking
ClinVar
0
0
0
12
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 :
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 HEL-S-36
SYNONYM PI-TPalpha
SYNONYM PITPN
SYNONYM VIB1A
MIM 600174 OMIM
HGNC HGNC:9001 HGNC
Ensembl ENSG00000174238 Ensembl
AllianceGenome HGNC:9001
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000313486.12 hg38 chr17 1,517,718 1,562,792 45,075
ENST00000313486.12 hg19 chr17 1,421,012 1,466,086 45,075
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