PPP1R13L protein phosphatase 1 regulatory subunit 13 like

Information
Symbol
PPP1R13L
Type
protein-coding
Description
protein phosphatase 1 regulatory subunit 13 like
Entrez Gene ID
10848
Genome
hg19
Position
chr19:45,882,896-45,908,327
Genome
hg38
Position
chr19:45,379,638-45,405,069
MIM
607463 OMIM
HGNC
HGNC:18838 HGNC
Ensembl
ENSG00000104881 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Likely pathogenic 0 10
Benign 0 20
Likely benign 0 10
Uncertain significance 0 118
Ranking
ClinVar
0
0
6
154
4
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 ARCME
SYNONYM CMAEA
SYNONYM IASPP
SYNONYM NKIP1
SYNONYM RAI
SYNONYM RAI4
MIM 607463 OMIM
HGNC HGNC:18838 HGNC
Ensembl ENSG00000104881 Ensembl
AllianceGenome HGNC:18838
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000360957.10 hg38 chr19 45,379,638 45,405,069 25,432
ENST00000418234.6 hg38 chr19 45,379,638 45,406,349 26,712
ENST00000360957.10 hg19 chr19 45,882,896 45,908,327 25,432
ENST00000418234.6 hg19 chr19 45,882,896 45,909,607 26,712
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