Hs02799662_cn

• Gene Symbol: CFHR5
• Assay Reference Genome Location: Chr.1:196998274 on build GRCh38
• Cytoband: 1q31.3

Target Gene Details

• Entrez Gene ID: 81494
• Gene Name: complement factor H related 5
• Gene Aliases: CFHL5, CFHR5D, FHR-5, FHR5
• Location: Chr.1:196975022-197009725 on Build GRCh38
• Assay Gene Location: Overlaps Exon 8 - Intron 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CFHR5	NM_030787.3			NP_110414.1
	XM_011510020.2			XP_011508322.1
	AF295327.1			AAK15619.1
	AK314026.1
	BC026282.1
	BC111773.1			AAI11774.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2676788	Chr.1:196987254 - 197007832 on Build GRCh38	Deletion	CFHR5
dgv12e55	Chr.1:196762018 - 197042447 on Build GRCh38	Gain	CFHR5 CFHR1 CFHR4 CFHR3 CFHR2 F13B
esv2758990	Chr.1:196621707 - 197200642 on Build GRCh38	Gain+Loss	CFHR5 CFHR1 CFHR4 ZBTB41 CFHR3 ASPM CFH CFHR2 F13B
nsv528460	Chr.1:196573437 - 197477572 on Build GRCh38	Gain	CFHR5 CFHR1 CFHR4 ZBTB41 CRB1 CFHR3 ASPM MIR4735 CFH KCNT2 CFHR2 F13B
dgv72e214	Chr.1:196987015 - 197011691 on Build GRCh38	Loss	CFHR5

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

complement activation, alternative pathway