PCDH15 gene homepage - MSeqDR-LSDB Mitochondrial Disease Locus Specific Database

MSeqDR-LSDB Mitochondrial Disease Locus Specific Database

PCDH15 (protocadherin-related 15)

LOVD v.3.0 Build 21 [ Current LOVD status ]
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	Curator: Lishuang Shen

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PCDH15 gene homepage

General information
Gene symbol	PCDH15
Gene name	protocadherin-related 15
Chromosome	10
Chromosomal band	q21.1
Imprinted	Unknown
Genomic reference	NC_000010.10
Transcript reference	NM_033056.3
Associated with diseases	500004
Citation reference(s)	-
Curators (1)	Lishuang Shen
Total number of public variants reported	100
Unique public DNA variants reported	100
Individuals with public variants	0
Hidden variants	0
Download all this gene's data	Download all data
Date created	November 26, 2013
Date last updated	November 26, 2013
Version	PCDH15:131126

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
HGNC	14674
Entrez Gene	65217
PubMed articles	PCDH15
OMIM - Gene	605514
OMIM - Diseases	500004 (RETINITIS PIGMENTOSA-DEAFNESS SYNDROME )
HGMD	PCDH15
GeneCards	PCDH15
GeneTests	PCDH15

Active transcripts

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00003136	10	transcript variant C	NM_033056.3	NP_149045.3	100

Copyright & disclaimer
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