PHACTR3 phosphatase and actin regulator 3

Information
Symbol
PHACTR3
Type
protein-coding
Description
phosphatase and actin regulator 3
Entrez Gene ID
116154
Genome
hg19
Position
chr20:58,179,595-58,422,766
Genome
hg38
Position
chr20:59,604,540-59,847,711
MIM
608725 OMIM
HGNC
HGNC:15833 HGNC
Ensembl
ENSG00000087495 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 72
Ranking
ClinVar
0
0
0
74
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 C20orf101
SYNONYM H17739
SYNONYM PPP1R123
SYNONYM SCAPIN1
SYNONYM SCAPININ
MIM 608725 OMIM
HGNC HGNC:15833 HGNC
Ensembl ENSG00000087495 Ensembl
AllianceGenome HGNC:15833
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000361300.4 hg38 chr20 59,721,210 59,847,711 126,502
ENST00000371015.6 hg38 chr20 59,604,540 59,847,711 243,172
ENST00000355648.8 hg38 chr20 59,676,661 59,847,711 171,051
ENST00000541461.5 hg38 chr20 59,628,609 59,847,709 219,101
ENST00000359926.7 hg38 chr20 59,577,509 59,847,711 270,203
ENST00000395636.6 hg38 chr20 59,721,210 59,847,711 126,502
ENST00000492611.5 hg38 chr20 59,835,853 59,847,711 11,859
ENST00000359926.7 hg19 chr20 58,152,564 58,422,766 270,203
ENST00000371015.6 hg19 chr20 58,179,595 58,422,766 243,172
ENST00000541461.5 hg19 chr20 58,203,664 58,422,764 219,101
ENST00000355648.8 hg19 chr20 58,251,716 58,422,766 171,051
ENST00000395636.6 hg19 chr20 58,296,265 58,422,766 126,502
ENST00000361300.4 hg19 chr20 58,296,265 58,422,766 126,502
ENST00000492611.5 hg19 chr20 58,410,908 58,422,766 11,859
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