PRPH peripherin

Information
Symbol
PRPH
Type
protein-coding
Description
peripherin
Entrez Gene ID
5630
Genome
hg19
Position
chr12:49,688,930-49,692,469
Genome
hg38
Position
chr12:49,295,147-49,298,686
MIM
170710 OMIM
HGNC
HGNC:9461 HGNC
Ensembl
ENSG00000135406 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 4
Benign 0 30
Likely benign 0 16
Conflicting classifications of pathogenicity 0 4
not provided 0 22
risk factor 0 2
Uncertain significance 0 68
Ranking
ClinVar
0
0
10
100
2
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 NEF4
SYNONYM PRPH1
MIM 170710 OMIM
HGNC HGNC:9461 HGNC
Ensembl ENSG00000135406 Ensembl
AllianceGenome HGNC:9461
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000257860.9 hg38 chr12 49,295,147 49,298,686 3,540
ENST00000257860.9 hg19 chr12 49,688,930 49,692,469 3,540
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