PCDH19 (Entrez ID: 57526)

Entrez Gene ID	57526
Official Gene Symbol	PCDH19 (GeneCards)
Full name	protocadherin 19
Location	Xq22.1
Other ids	Vega : OTTHUMG00000022000 MIM : 300460 HGNC : HGNC:14270 Ensembl : ENSG00000165194
Other names	EFMR, EIEE9
Summary	The protein encoded by this gene is a member of the delta-2 protocadherin subclass of the cadherin superfamily. The encoded protein is thought to be a calcium-dependent cell-adhesion protein that is primarily expressed in the brain. Mutations in this gene on human chromosome X are associated with sporadic infantile epileptic encephalopathy and to a female-restricted form of epilepsy (EFMR; also known as PCDH19RE). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]

Variants

Found 24 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
99	57526	PCDH19	X	99662577	99662577	Early infantile epileptic encephalopathy9	ABI3130XL
100	57526	PCDH19	X	99662577	99662577	Early infantile epileptic encephalopathy9	ABI3130XL
101	57526	PCDH19	X	99662577	99662577	Early infantile epileptic encephalopathy9	ABI3130XL
102	57526	PCDH19	X	99662577	99662577	Early infantile epileptic encephalopathy9	ABI3130XL
699	57526	PCDH19	X	99662991	99662991	EIEE9	ABI3130XL Exome Sequencing
22178	57526	PCDH19	X	99599151	99599151	Asymptomatic	ABI3130XL Exome Sequencing HiSeq X Ten
24227	57526	PCDH19	X	99794531	99794531	Asymptomatic	ABI3130XL Exome Sequencing HiSeq X Ten Single cell Sequencing Cell cloning
24241	57526	PCDH19	X	99602786	99602786	Asymptomatic	ABI3130XL Exome Sequencing HiSeq X Ten Single cell Sequencing Cell cloning
30187	57526	PCDH19	X	99662867	99662867	Developmental and epileptic encephalopathy	ABI3130XL Exome Sequencing HiSeq X Ten Single cell Sequencing Cell cloning smMIP
30197	57526	PCDH19	X	99661637	99661640	EIEE9	ABI3130XL Exome Sequencing HiSeq X Ten Single cell Sequencing Cell cloning smMIP Custom capture
30198	57526	PCDH19	X	99662962	99662962	EIEE9	ABI3130XL Exome Sequencing HiSeq X Ten Single cell Sequencing Cell cloning smMIP Custom capture Raindance Emulsion PCR
30199	57526	PCDH19	X	99605642	99605642	EIEE9	ABI3130XL Exome Sequencing HiSeq X Ten Single cell Sequencing Cell cloning smMIP Custom capture Raindance Emulsion PCR
30200	57526	PCDH19	X	99661447	99661447	EIEE9	ABI3130XL Exome Sequencing HiSeq X Ten Single cell Sequencing Cell cloning smMIP Custom capture Raindance Emulsion PCR
30201	57526	PCDH19	X	99661723	99661723	EIEE9	ABI3130XL Exome Sequencing HiSeq X Ten Single cell Sequencing Cell cloning smMIP Custom capture Raindance Emulsion PCR
30202	57526	PCDH19	X	99663226	99663226	EIEE9	ABI3130XL Exome Sequencing HiSeq X Ten Single cell Sequencing Cell cloning smMIP Custom capture Raindance Emulsion PCR
30231	57526	PCDH19	X	99661447	99661447	EIEE9	ABI3130XL Exome Sequencing HiSeq X Ten Single cell Sequencing Cell cloning smMIP Custom capture Raindance Emulsion PCR Sanger
30232	57526	PCDH19	X	99662244	99662244	EIEE9	ABI3130XL Exome Sequencing HiSeq X Ten Single cell Sequencing Cell cloning smMIP Custom capture Raindance Emulsion PCR Sanger Trueseq Amplicon
30233	57526	PCDH19	X	99662991	99662991	EIEE9	ABI3130XL Exome Sequencing HiSeq X Ten Single cell Sequencing Cell cloning smMIP Custom capture Raindance Emulsion PCR Sanger Trueseq Amplicon
30234	57526	PCDH19	X	99661732	99661732	EIEE9	ABI3130XL Exome Sequencing HiSeq X Ten Single cell Sequencing Cell cloning smMIP Custom capture Raindance Emulsion PCR Sanger Trueseq Amplicon NGS gene panel
30235	57526	PCDH19	X	99662756	99662756	EIEE9	ABI3130XL Exome Sequencing HiSeq X Ten Single cell Sequencing Cell cloning smMIP Custom capture Raindance Emulsion PCR Sanger Trueseq Amplicon NGS gene panel
30236	57526	PCDH19	X	99663134	99663134	EIEE9	ABI3130XL Exome Sequencing HiSeq X Ten Single cell Sequencing Cell cloning smMIP Custom capture Raindance Emulsion PCR Sanger Trueseq Amplicon NGS gene panel
30237	57526	PCDH19	X	99661914	99661914	EIEE9	ABI3130XL Exome Sequencing HiSeq X Ten Single cell Sequencing Cell cloning smMIP Custom capture Raindance Emulsion PCR Sanger Trueseq Amplicon NGS gene panel
30238	57526	PCDH19	X	99662797	99662797	EIEE9	ABI3130XL Exome Sequencing HiSeq X Ten Single cell Sequencing Cell cloning smMIP Custom capture Raindance Emulsion PCR Sanger Trueseq Amplicon NGS gene panel
34617	57526	PCDH19	X	99566266	99566266	Asymptomatic	ABI3130XL Exome Sequencing HiSeq X Ten Single cell Sequencing Cell cloning smMIP Custom capture Raindance Emulsion PCR Sanger Trueseq Amplicon NGS gene panel Whole Genome Sequencing Ion Torrent PGM Sequencing