PPP1R3F protein phosphatase 1 regulatory subunit 3F

Information
Symbol
PPP1R3F
Type
protein-coding
Description
protein phosphatase 1 regulatory subunit 3F
Entrez Gene ID
89801
Genome
hg19
Position
chrX:49,126,256-49,144,552
Genome
hg38
Position
chrX:49,269,793-49,288,090
MIM
301104 OMIM
HGNC
HGNC:14944 HGNC
Ensembl
ENSG00000049769 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 10
not provided 6 0
Uncertain significance 0 118
Ranking
ClinVar
0
0
0
134
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
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 HB2E
SYNONYM LL0XNC01-7P3.1
SYNONYM R3F
MIM 301104 OMIM
HGNC HGNC:14944 HGNC
Ensembl ENSG00000049769 Ensembl
AllianceGenome HGNC:14944
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000495799.5 hg38 chrX 49,269,870 49,287,170 17,301
ENST00000466508.5 hg38 chrX 49,269,843 49,287,225 17,383
ENST00000376188.1 hg38 chrX 49,280,776 49,287,510 6,735
ENST00000055335.11 hg38 chrX 49,269,793 49,288,090 18,298
ENST00000055335.11 hg19 chrX 49,126,256 49,144,552 18,297
ENST00000466508.5 hg19 chrX 49,126,306 49,143,687 17,382
ENST00000495799.5 hg19 chrX 49,126,333 49,143,632 17,300
ENST00000376188.1 hg19 chrX 49,137,239 49,143,972 6,734
Genome browser