The PCDH19 gene homepage

General information
Gene symbol PCDH19
Gene name protocadherin 19
Chromosome X
Chromosomal band q22.1
Imprinted Unknown
Genomic reference NG_021319.1
Transcript reference NM_001105243.1, NM_001184880.1, NM_020766.2
Associated with diseases EIEE-9, ID
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 10
Unique public DNA variants reported 3
Individuals with public variants 6
Hidden variants 15
Date created November 30, -0001
Date last updated September 20, 2016
Version PCDH19:160920

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:14270
Entrez Gene 57526
PubMed articles PCDH19
OMIM - Gene 300460
OMIM - Diseases EIEE-9 (encephalopathy, epileptic, early infantile, type 9 (EIEE-9))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00013293 X transcript variant 2 NM_020766.2 NP_065817.2 10
00013294 X transcript variant 1 NM_001105243.1 NP_001098713.1 10
00013295 X transcript variant 3 NM_001184880.1 NP_001171809.1 10