PCDH19 protocadherin 19

Information
Symbol
PCDH19
Type
protein-coding
Description
protocadherin 19
Entrez Gene ID
57526
Genome
hg19
Position
chrX:99,546,642-99,665,271
Genome
hg38
Position
chrX:100,291,644-100,410,273
MIM
300460 OMIM
HGNC
HGNC:14270 HGNC
Ensembl
ENSG00000165194 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 16 576
Likely pathogenic 10 204
Benign 0 74
Likely benign 0 624
Conflicting classifications of pathogenicity 0 112
not provided 6 4
Uncertain significance 0 1,018
Ranking
ClinVar
0
0
440
1,918
40
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 DEE9
SYNONYM EFMR
SYNONYM EIEE9
MIM 300460 OMIM
HGNC HGNC:14270 HGNC
Ensembl ENSG00000165194 Ensembl
AllianceGenome HGNC:14270
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000420881.6 hg38 chrX 100,291,644 100,408,597 116,954
ENST00000255531.8 hg38 chrX 100,291,646 100,408,597 116,952
ENST00000373034.8 hg38 chrX 100,291,644 100,410,273 118,630
ENST00000420881.6 hg19 chrX 99,546,642 99,663,595 116,954
ENST00000373034.8 hg19 chrX 99,546,642 99,665,271 118,630
ENST00000255531.8 hg19 chrX 99,546,644 99,663,595 116,952
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