PKDREJ polycystin family receptor for egg jelly

Information
Symbol
PKDREJ
Type
protein-coding
Description
polycystin family receptor for egg jelly
Entrez Gene ID
10343
Genome
hg19
Position
chr22:46,651,560-46,659,240
Genome
hg38
Position
chr22:46,255,663-46,263,343
MIM
604670 OMIM
HGNC
HGNC:9015 HGNC
Ensembl
ENSG00000130943 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 28
not provided 1 0
Uncertain significance 0 234
Ranking
ClinVar
0
0
0
262
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
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
MIM 604670 OMIM
HGNC HGNC:9015 HGNC
Ensembl ENSG00000130943 Ensembl
AllianceGenome HGNC:9015
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000253255.7 hg38 chr22 46,255,663 46,263,343 7,681
ENST00000253255.7 hg19 chr22 46,651,560 46,659,240 7,681
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