PCP4L1 Purkinje cell protein 4 like 1

Information
Symbol
PCP4L1
Type
protein-coding
Description
Purkinje cell protein 4 like 1
Entrez Gene ID
654790
Genome
hg19
Position
chr1:161,228,535-161,255,240
Genome
hg38
Position
chr1:161,258,745-161,285,450
HGNC
HGNC:20448 HGNC
Ensembl
ENSG00000248485 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Uncertain significance 0 6
Ranking
ClinVar
0
0
0
10
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 IQM1
HGNC HGNC:20448 HGNC
Ensembl ENSG00000248485 Ensembl
AllianceGenome HGNC:20448
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000504449.2 hg38 chr1 161,258,745 161,285,450 26,706
ENST00000504449.2 hg19 chr1 161,228,535 161,255,240 26,706
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