Hs02892425_cn

• Gene Symbol: PCDH19
• Assay Reference Genome Location: Chr.X:100295798 on build GRCh38
• Cytoband: Xq22.1

Target Gene Details

• Entrez Gene ID: 57526
• Gene Name: protocadherin 19
• Gene Aliases: EFMR, EIEE9
• Location: Chr.X:100291644-100410273 on Build GRCh38
• Assay Gene Location: Within Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCDH19	NM_001105243.1	5	5461	NP_001098713.1
	NM_001184880.1	6	5602	NP_001171809.1
	NM_020766.2	5	5458	NP_065817.2
	XM_011530997.2	6	4568	XP_011529299.1
	AB037734.1	5	1676	BAA92551.1
	BC136628.1	5	2342
	CR749278.1	5	2339	CAH18133.1
	EF676096.1	6	5602

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv7007	Chr.X:100226294 - 100297292 on Build GRCh38	Deletion	PCDH19
esv2752340	Chr.X:99231803 - 100513048 on Build GRCh38	Gain	XRCC6P5 PCDH19

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

cadherin

Gene Ontology Categories:

Process(es)

homophilic cell adhesion via plasma membrane adhesion molecules
brain development

Function(s)

calcium ion binding