PTOV1 PTOV1 extended AT-hook containing adaptor protein

Information
Symbol
PTOV1
Type
protein-coding
Description
PTOV1 extended AT-hook containing adaptor protein
Entrez Gene ID
53635
Genome
hg19
Position
chr19:50,354,416-50,363,999
Genome
hg38
Position
chr19:49,851,159-49,860,742
MIM
610195 OMIM
HGNC
HGNC:9632 HGNC
Ensembl
ENSG00000104960 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
Uncertain significance 0 76
Ranking
ClinVar
0
0
0
78
2
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 ACID2
SYNONYM PTOV-1
MIM 610195 OMIM
HGNC HGNC:9632 HGNC
Ensembl ENSG00000104960 Ensembl
AllianceGenome HGNC:9632
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000599732.5 hg38 chr19 49,851,191 49,860,744 9,554
ENST00000601638.5 hg38 chr19 49,850,828 49,860,713 9,886
ENST00000600603.5 hg38 chr19 49,850,754 49,860,739 9,986
ENST00000391842.6 hg38 chr19 49,851,159 49,860,742 9,584
ENST00000601675.5 hg38 chr19 49,851,225 49,860,740 9,516
ENST00000391842.6 hg19 chr19 50,354,416 50,363,999 9,584
ENST00000599732.5 hg19 chr19 50,354,448 50,364,001 9,554
ENST00000600603.5 hg19 chr19 50,354,011 50,363,996 9,986
ENST00000601638.5 hg19 chr19 50,354,085 50,363,970 9,886
ENST00000601675.5 hg19 chr19 50,354,482 50,363,997 9,516
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