PRB1 proline rich protein BstNI subfamily 1

Information
Symbol
PRB1
Type
protein-coding
Description
proline rich protein BstNI subfamily 1
Entrez Gene ID
5542
Genome
hg19
Position
chr12:11,504,757-11,508,525
Genome
hg38
Position
chr12:11,351,823-11,355,591
MIM
180989 OMIM
HGNC
HGNC:9337 HGNC
Ensembl
ENSG00000251655 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 6
Uncertain significance 0 86
Ranking
ClinVar
0
0
0
94
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 :
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 PM
SYNONYM PMF
SYNONYM PMS
SYNONYM PRB1L
SYNONYM PRB1M
MIM 180989 OMIM
HGNC HGNC:9337 HGNC
Ensembl ENSG00000251655 Ensembl
AllianceGenome HGNC:9337
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000545626.5 hg38 chr12 11,351,823 11,355,586 3,764
ENST00000500254.6 hg38 chr12 11,351,823 11,355,591 3,769
ENST00000545626.5 hg19 chr12 11,504,757 11,508,520 3,764
ENST00000500254.6 hg19 chr12 11,504,757 11,508,525 3,769
Genome browser