PCDH18 protocadherin 18

Information
Symbol
PCDH18
Type
protein-coding
Description
protocadherin 18
Entrez Gene ID
54510
Genome
hg19
Position
chr4:138,440,072-138,453,648
Genome
hg38
Position
chr4:137,518,918-137,532,494
MIM
608287 OMIM
HGNC
HGNC:14268 HGNC
Ensembl
ENSG00000189184 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 6
Uncertain significance 0 118
Ranking
ClinVar
0
0
0
124
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 :
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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 PCDH68L
MIM 608287 OMIM
HGNC HGNC:14268 HGNC
Ensembl ENSG00000189184 Ensembl
AllianceGenome HGNC:14268
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000611581.1 hg38 chr4 137,521,373 137,532,494 11,122
ENST00000412923.6 hg38 chr4 137,519,703 137,532,459 12,757
ENST00000344876.9 hg38 chr4 137,518,918 137,532,494 13,577
ENST00000507846.5 hg38 chr4 137,519,703 137,532,494 12,792
ENST00000510305.5 hg38 chr4 137,520,838 137,532,494 11,657
ENST00000511115.5 hg38 chr4 137,520,838 137,532,476 11,639
ENST00000344876.9 hg19 chr4 138,440,072 138,453,648 13,577
ENST00000412923.6 hg19 chr4 138,440,857 138,453,613 12,757
ENST00000507846.5 hg19 chr4 138,440,857 138,453,648 12,792
ENST00000511115.5 hg19 chr4 138,441,992 138,453,630 11,639
ENST00000510305.5 hg19 chr4 138,441,992 138,453,648 11,657
ENST00000611581.1 hg19 chr4 138,442,527 138,453,648 11,122
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