PRR30 proline rich 30

Information
Symbol
PRR30
Type
protein-coding
Description
proline rich 30
Entrez Gene ID
339779
Genome
hg19
Position
chr2:27,359,716-27,362,278
Genome
hg38
Position
chr2:27,136,848-27,139,410
HGNC
HGNC:28677 HGNC
Ensembl
ENSG00000186143 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 14
Uncertain significance 0 50
Ranking
ClinVar
0
0
0
64
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 C2orf53
HGNC HGNC:28677 HGNC
Ensembl ENSG00000186143 Ensembl
AllianceGenome HGNC:28677
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000335524.7 hg38 chr2 27,136,848 27,139,410 2,563
ENST00000432962.2 hg38 chr2 27,136,915 27,139,403 2,489
ENST00000335524.7 hg19 chr2 27,359,716 27,362,278 2,563
ENST00000432962.2 hg19 chr2 27,359,783 27,362,271 2,489
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