PRPH2 peripherin 2

Information
Symbol
PRPH2
Type
protein-coding
Description
peripherin 2
Entrez Gene ID
5961
Genome
hg19
Position
chr6:42,664,336-42,690,335
Genome
hg38
Position
chr6:42,696,598-42,722,597
MIM
179605 OMIM
HGNC
HGNC:9942 HGNC
Ensembl
ENSG00000112619 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 34 480
Likely pathogenic 0 278
Benign 0 90
Likely benign 0 190
Conflicting classifications of pathogenicity 0 90
not provided 0 16
Uncertain significance 0 434
Ranking
ClinVar
0
0
280
878
168
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 AOFMD
SYNONYM AVMD
SYNONYM CACD2
SYNONYM DS
SYNONYM MDBS1
SYNONYM PRPH
SYNONYM RDS
SYNONYM RP7
SYNONYM TSPAN22
SYNONYM rd2
MIM 179605 OMIM
HGNC HGNC:9942 HGNC
Ensembl ENSG00000112619 Ensembl
AllianceGenome HGNC:9942
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000230381.7 hg38 chr6 42,696,598 42,722,597 26,000
ENST00000230381.7 hg19 chr6 42,664,336 42,690,335 26,000
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