PITPNM2 phosphatidylinositol transfer protein membrane associated 2

Information
Symbol
PITPNM2
Type
protein-coding
Description
phosphatidylinositol transfer protein membrane associated 2
Entrez Gene ID
57605
Genome
hg19
Position
chr12:123,468,027-123,635,637
Genome
hg38
Position
chr12:122,983,480-123,151,090
MIM
608920 OMIM
HGNC
HGNC:21044 HGNC
Ensembl
ENSG00000090975 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 12
Uncertain significance 0 136
Ranking
ClinVar
0
0
0
148
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 NIR-3
SYNONYM NIR3
SYNONYM RDGB2
SYNONYM RDGBA2
MIM 608920 OMIM
HGNC HGNC:21044 HGNC
Ensembl ENSG00000090975 Ensembl
AllianceGenome HGNC:21044
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000320201.10 hg38 chr12 122,983,480 123,151,090 167,611
ENST00000280562.9 hg38 chr12 122,983,480 123,110,495 127,016
ENST00000546049.5 hg38 chr12 123,000,303 123,081,333 81,031
ENST00000280562.9 hg19 chr12 123,468,027 123,595,042 127,016
ENST00000320201.10 hg19 chr12 123,468,027 123,635,637 167,611
ENST00000546049.5 hg19 chr12 123,484,850 123,565,880 81,031
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