The PCDH15 gene homepage

General information
Gene symbol PCDH15
Gene name protocadherin-related 15
Chromosome 10
Chromosomal band q21.1
Imprinted Unknown
Genomic reference NG_009191.1
Transcript reference NM_001142763.1, NM_001142764.1, NM_001142765.1, NM_001142766.1, NM_001142767.1, NM_001142768.1, NM_001142769.1, NM_001142770.1, NM_001142771.1, NM_001142772.1, NM_001142773.1, NM_033056.3, XM_005270056.1, XM_005270057.1, XM_005270058.1
Associated with diseases DFNB-23, USH-1D, USH-1F
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 373
Unique public DNA variants reported 47
Individuals with public variants 35
Hidden variants 2339
Date created October 30, 2013
Date last updated September 28, 2016
Version PCDH15:160928

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:14674
Entrez Gene 65217
PubMed articles PCDH15
OMIM - Gene 605514
OMIM - Diseases DFNB-23 (deafness, autosomal recessive, type 23 (DFNB-23))
USH-1D (Usher syndrome, type 1D (USH-1D))
USH-1F (Usher syndrome, type 1F (USH-1F))
HGMD PCDH15
GeneCards PCDH15
GeneTests PCDH15


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00018645 10 Manually created transcript. (removed from reference sequence) NM_001142769.1 - 353
00018646 10 Manually created transcript. NM_001142770.1 - 336
00005588 10 transcript variant C NM_033056.3 NP_149045.3 314
00005589 10 transcript variant F NM_001142767.1 NP_001136239.1 314
00009377 10 transcript variant A NM_001142763.1 NP_001136235.1 314
00018641 10 Manually created transcript. NM_001142764.1 - 314
00018643 10 Manually created transcript. (removed from reference sequence) NM_001142766.1 - 314
00018642 10 Manually created transcript. NM_001142765.1 - 313
00018647 10 Manually created transcript. (removed from reference sequence) NM_001142771.1 - 312
00018648 10 Manually created transcript. NM_001142772.1 - 312
00005587 10 transcript variant H NM_001142773.1 NP_001136245.1 308
00018644 10 Manually created transcript. NM_001142768.1 - 308
00033258 10 transcript variant X3 XM_005270058.1 XP_005270115.1 -
00033259 10 transcript variant X2 XM_005270057.1 XP_005270114.1 -
00033260 10 transcript variant X1 XM_005270056.1 XP_005270113.1 -


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