PRPF3 pre-mRNA processing factor 3

Information
Symbol
PRPF3
Type
protein-coding
Description
pre-mRNA processing factor 3
Entrez Gene ID
9129
Genome
hg19
Position
chr1:150,293,982-150,325,709
Genome
hg38
Position
chr1:150,321,533-150,353,233
MIM
607301 OMIM
HGNC
HGNC:17348 HGNC
Ensembl
ENSG00000117360 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 14
Likely pathogenic 0 10
Benign 2 83
Likely benign 0 272
Conflicting classifications of pathogenicity 0 26
Uncertain significance 0 296
Ranking
ClinVar
0
0
56
603
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
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 HPRP3
SYNONYM HPRP3P
SYNONYM PRP3
SYNONYM Prp3p
SYNONYM RP18
SYNONYM SNRNP90
MIM 607301 OMIM
HGNC HGNC:17348 HGNC
Ensembl ENSG00000117360 Ensembl
AllianceGenome HGNC:17348
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000324862.7 hg38 chr1 150,321,533 150,353,233 31,701
ENST00000324862.7 hg19 chr1 150,293,982 150,325,709 31,728
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