PCDH15 (Entrez ID: 65217)

Entrez Gene ID	65217
Official Gene Symbol	PCDH15 (GeneCards)
Full name	protocadherin related 15
Location	10q21.1
Other ids	Vega : OTTHUMG00000018259 MIM : 605514 HGNC : HGNC:14674 Ensembl : ENSG00000150275
Other names	USH1F, CDHR15, DFNB23
Summary	This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur. [provided by RefSeq, Dec 2008]

Variants

Found 28 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
1111	65217	PCDH15	10	55568988	55568988	Human Skin Fibroblasts	HiSeq 2500
13833	65217	PCDH15	10	56149350	56149350	Asymptomatic	HiSeq 2500 HiSeq X Ten
14074	65217	PCDH15	10	57130575	57130575	Asymptomatic	HiSeq 2500 HiSeq X Ten
14095	65217	PCDH15	10	55852327	55852327	Asymptomatic	HiSeq 2500 HiSeq X Ten
14110	65217	PCDH15	10	55918164	55918164	Asymptomatic	HiSeq 2500 HiSeq X Ten
14142	65217	PCDH15	10	56271342	56271342	Asymptomatic	HiSeq 2500 HiSeq X Ten
14179	65217	PCDH15	10	57263554	57263554	Asymptomatic	HiSeq 2500 HiSeq X Ten
14210	65217	PCDH15	10	55654259	55654259	Asymptomatic	HiSeq 2500 HiSeq X Ten
14227	65217	PCDH15	10	57219305	57219305	Asymptomatic	HiSeq 2500 HiSeq X Ten
14320	65217	PCDH15	10	55672378	55672378	Asymptomatic	HiSeq 2500 HiSeq X Ten
14321	65217	PCDH15	10	55873778	55873778	Asymptomatic	HiSeq 2500 HiSeq X Ten
14330	65217	PCDH15	10	55728015	55728015	Asymptomatic	HiSeq 2500 HiSeq X Ten
14364	65217	PCDH15	10	56297379	56297379	Asymptomatic	HiSeq 2500 HiSeq X Ten
14372	65217	PCDH15	10	56004184	56004184	Asymptomatic	HiSeq 2500 HiSeq X Ten
14434	65217	PCDH15	10	56535176	56535176	Asymptomatic	HiSeq 2500 HiSeq X Ten
14468	65217	PCDH15	10	55878580	55878580	Asymptomatic	HiSeq 2500 HiSeq X Ten
14488	65217	PCDH15	10	56775442	56775442	Asymptomatic	HiSeq 2500 HiSeq X Ten
14554	65217	PCDH15	10	55917010	55917010	Asymptomatic	HiSeq 2500 HiSeq X Ten
14580	65217	PCDH15	10	56065210	56065210	Asymptomatic	HiSeq 2500 HiSeq X Ten
14581	65217	PCDH15	10	56201610	56201610	Asymptomatic	HiSeq 2500 HiSeq X Ten
14641	65217	PCDH15	10	56817517	56817517	Asymptomatic	HiSeq 2500 HiSeq X Ten
14727	65217	PCDH15	10	56433268	56433268	Cockayne syndrome	HiSeq 2500 HiSeq X Ten
14772	65217	PCDH15	10	56584535	56584535	Cockayne syndrome	HiSeq 2500 HiSeq X Ten
23490	65217	PCDH15	10	56838512	56838512	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning
23498	65217	PCDH15	10	57119608	57119608	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning
23531	65217	PCDH15	10	55679803	55679803	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning
23532	65217	PCDH15	10	57113500	57113500	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning
27088	65217	PCDH15	10	56029456	56029456	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning