PLCZ1 phospholipase C zeta 1

Information
Symbol
PLCZ1
Type
protein-coding
Description
phospholipase C zeta 1
Entrez Gene ID
89869
Genome
hg19
Position
chr12:18,836,114-18,890,946
Genome
hg38
Position
chr12:18,683,180-18,738,012
MIM
608075 OMIM
HGNC
HGNC:19218 HGNC
Ensembl
ENSG00000139151 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 18
Likely pathogenic 0 4
Benign 0 2
Likely benign 0 10
Uncertain significance 0 50
Ranking
ClinVar
0
0
2
68
14
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 :
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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 NYD-SP27
SYNONYM PLC-zeta-1
SYNONYM PLCzeta
SYNONYM SPGF17
MIM 608075 OMIM
HGNC HGNC:19218 HGNC
Ensembl ENSG00000139151 Ensembl
AllianceGenome HGNC:19218
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000539875.5 hg38 chr12 18,683,187 18,737,469 54,283
ENST00000534932.5 hg38 chr12 18,683,182 18,695,037 11,856
ENST00000648272.1 hg38 chr12 18,683,176 18,738,100 54,925
ENST00000538330.5 hg38 chr12 18,683,182 18,714,771 31,590
ENST00000266505.12 hg38 chr12 18,683,180 18,738,012 54,833
ENST00000266505.12 hg19 chr12 18,836,114 18,890,946 54,833
ENST00000534932.5 hg19 chr12 18,836,116 18,847,971 11,856
ENST00000538330.5 hg19 chr12 18,836,116 18,867,705 31,590
ENST00000539875.5 hg19 chr12 18,836,121 18,890,403 54,283
ENST00000648272.1 hg19 chr12 18,836,110 18,891,034 54,925
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