Hs04197581_cn

• Gene Symbol: CFHR1
• Assay Reference Genome Location: Chr.1:196830173 on build GRCh38
• Cytoband: 1q31.3

Target Gene Details

• Entrez Gene ID: 3078
• Gene Name: complement factor H related 1
• Gene Aliases: CFHL, CFHL1, CFHL1P, CFHR1P, FHR1, H36-1, H36-2, HFL1, HFL2
• Location: Chr.1:196819730-196832189 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CFHR1	NM_002113.2			NP_002104.2
	XM_011509457.2			XP_011507759.1
	AK290830.1
	BC016755.1			AAH16755.1
	BC107771.1			AAI07772.1
	M65292.1			AAA35946.1
	M65293.1			AAA35947.1
	X56209.1			CAA39666.1
	X56210.1			CAA39667.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3891026	Chr.1:196743466 - 196851286 on Build GRCh38	Gain+Loss	CFHR1 CFHR3 CFH
nsv471614	Chr.1:196700381 - 196986100 on Build GRCh38	Gain+Loss	CFHR4 CFHR2 CFHR1 CFHR3 CFHR5 CFH
dgv546n100	Chr.1:196819844 - 196847588 on Build GRCh38	Gain	CFHR1
nsv1159841	Chr.1:196758720 - 196840786 on Build GRCh38	Deletion	CFHR1 CFHR3
nsv482142	Chr.1:196819731 - 196832186 on Build GRCh38	Gain	CFHR1
nsv548828	Chr.1:196812480 - 196844140 on Build GRCh38	Gain	CFHR1
esv1001500	Chr.1:196742223 - 196860102 on Build GRCh38	Deletion	CFHR1 CFHR3 CFH
nsv1008777	Chr.1:196820420 - 196859808 on Build GRCh38	Gain	CFHR1
dgv749n54	Chr.1:196808587 - 196835130 on Build GRCh38	Loss	CFHR1
nsv436214	Chr.1:196747584 - 196830482 on Build GRCh38	Deletion	CFHR1 CFHR3
nsv469599	Chr.1:196827346 - 196986100 on Build GRCh38	Loss	CFHR4 CFHR2 CFHR1 CFHR5
dgv538n100	Chr.1:196787999 - 196843388 on Build GRCh38	Loss	CFHR1 CFHR3
nsv1159842	Chr.1:196780731 - 196940515 on Build GRCh38	Duplication	CFHR4 CFHR1 CFHR3
dgv25n16	Chr.1:196808688 - 196941840 on Build GRCh38	Insertion	CFHR4 CFHR1
esv3030456	Chr.1:196806870 - 196834870 on Build GRCh38	Deletion	CFHR1
nsv1008827	Chr.1:196772225 - 196870033 on Build GRCh38	Loss	CFHR1 CFHR3
esv3544666	Chr.1:196752738 - 196852870 on Build GRCh38	Deletion	CFHR1 CFHR3
esv3584613	Chr.1:196740630 - 196832942 on Build GRCh38	Loss	CFHR1 CFHR3 CFH
dgv503n100	Chr.1:196710325 - 196847588 on Build GRCh38	Gain	CFHR1 CFHR3 CFH
dgv748n54	Chr.1:196805166 - 196964115 on Build GRCh38	Gain	CFHR4 CFHR2 CFHR1
dgv504n100	Chr.1:196729100 - 196884377 on Build GRCh38	Gain	CFHR1 CFHR3 CFH
nsv548801	Chr.1:196792630 - 196935320 on Build GRCh38	Loss	CFHR4 CFHR1 CFHR3
dgv13e55	Chr.1:196764003 - 196932623 on Build GRCh38	Gain	CFHR4 CFHR1 CFHR3
dgv744n54	Chr.1:196787170 - 196835130 on Build GRCh38	Loss	CFHR1 CFHR3
dgv12e55	Chr.1:196762018 - 197042447 on Build GRCh38	Gain	CFHR4 CFHR2 CFHR1 F13B CFHR3 CFHR5
esv2421560	Chr.1:196753917 - 196846661 on Build GRCh38	Deletion	CFHR1 CFHR3
dgv508n100	Chr.1:196740618 - 196843388 on Build GRCh38	Loss	CFHR1 CFHR3 CFH
nsv1068779	Chr.1:196754369 - 196844570 on Build GRCh38	Deletion	CFHR1 CFHR3
esv2652513	Chr.1:196760586 - 196854711 on Build GRCh38	Loss	CFHR1 CFHR3
nsv469810	Chr.1:196700380 - 196847241 on Build GRCh38	Loss	CFHR1 CFHR3 CFH
nsv528460	Chr.1:196573437 - 197477572 on Build GRCh38	Gain	CFHR4 CFHR2 CRB1 CFHR1 KCNT2 F13B ZBTB41 CFHR3 ASPM CFHR5 MIR4735 CFH
esv3588469	Chr.1:196759747 - 196839735 on Build GRCh38	Loss	CFHR1 CFHR3
nsv1118141	Chr.1:196799570 - 196833670 on Build GRCh38	Deletion	CFHR1
esv33169	Chr.1:196769796 - 196853803 on Build GRCh38	Gain+Loss	CFHR1 CFHR3
dgv42e201	Chr.1:196743570 - 196889169 on Build GRCh38	Deletion	CFHR4 CFHR1 CFHR3 CFH
dgv505n100	Chr.1:196735867 - 196832930 on Build GRCh38	Gain	CFHR1 CFHR3 CFH
esv5113	Chr.1:196825198 - 196949317 on Build GRCh38	Loss	CFHR4 CFHR2 CFHR1
nsv1010736	Chr.1:196801553 - 196832930 on Build GRCh38	Gain	CFHR1
dgv524n100	Chr.1:196769481 - 196832930 on Build GRCh38	Gain+Loss	CFHR1 CFHR3
nsv1013569	Chr.1:196814484 - 196878339 on Build GRCh38	Loss	CFHR1
dgv549n100	Chr.1:196829423 - 196847588 on Build GRCh38	Gain+Loss	CFHR1
dgv43e201	Chr.1:196794400 - 196942973 on Build GRCh38	Deletion	CFHR4 CFHR1
dgv746n54	Chr.1:196794012 - 196835130 on Build GRCh38	Loss	CFHR1 CFHR3
nsv498700	Chr.1:196753075 - 196839376 on Build GRCh38	Loss	CFHR1 CFHR3
nsv946559	Chr.1:196820495 - 196855363 on Build GRCh38	Duplication	CFHR1
dgv751n54	Chr.1:196826893 - 196928264 on Build GRCh38	Loss	CFHR4 CFHR1
nsv3999	Chr.1:196748345 - 196951930 on Build GRCh38	Deletion	CFHR4 CFHR2 CFHR1 CFHR3
nsv514031	Chr.1:196769767 - 196832567 on Build GRCh38	Loss	CFHR1 CFHR3
esv26552	Chr.1:196741188 - 196950140 on Build GRCh38	Gain+Loss	CFHR4 CFHR2 CFHR1 CFHR3 CFH
esv3588478	Chr.1:196813225 - 196934743 on Build GRCh38	Loss	CFHR4 CFHR1
esv3891004	Chr.1:196748507 - 196932623 on Build GRCh38	Gain+Loss	CFHR4 CFHR1 CFHR3
dgv133e212	Chr.1:196747283 - 196907907 on Build GRCh38	Loss	CFHR4 CFHR1 CFHR3 CFH
dgv88e199	Chr.1:196791346 - 196933087 on Build GRCh38	Deletion	CFHR4 CFHR1 CFHR3
dgv740n54	Chr.1:196774797 - 196853900 on Build GRCh38	Loss	CFHR1 CFHR3
nsv517662	Chr.1:196741937 - 196968406 on Build GRCh38	Gain+Loss	CFHR4 CFHR2 CFHR1 CFHR3 CFH
nsv826008	Chr.1:196739341 - 196859658 on Build GRCh38	Loss	CFHR1 CFHR3 CFH
dgv536n100	Chr.1:196787880 - 196843388 on Build GRCh38	Gain+Loss	CFHR1 CFHR3
nsv498701	Chr.1:196813583 - 196935541 on Build GRCh38	Loss	CFHR4 CFHR1
dgv3n31	Chr.1:196812967 - 196921215 on Build GRCh38	Gain	CFHR4 CFHR1
esv2630480	Chr.1:196757071 - 196842783 on Build GRCh38	Deletion	CFHR1 CFHR3
nsv442555	Chr.1:196761905 - 196832942 on Build GRCh38	Loss	CFHR1 CFHR3
nsv428290	Chr.1:196621707 - 196992672 on Build GRCh38	Gain+Loss	CFHR4 CFHR2 CFHR1 CFHR3 CFHR5 CFH
dgv532n100	Chr.1:196770830 - 196847588 on Build GRCh38	Gain	CFHR1 CFHR3
dgv547n100	Chr.1:196819859 - 196847588 on Build GRCh38	Loss	CFHR1
nsv437335	Chr.1:196824079 - 196833377 on Build GRCh38	Loss	CFHR1
nsv8691	Chr.1:196741634 - 196958768 on Build GRCh38	Gain+Loss	CFHR4 CFHR2 CFHR1 CFHR3 CFH
nsv1130635	Chr.1:196799084 - 196923949 on Build GRCh38	Deletion	CFHR4 CFHR1
nsv819563	Chr.1:196747365 - 196843172 on Build GRCh38	Gain	CFHR1 CFHR3 CFH
dgv750n54	Chr.1:196818614 - 196898103 on Build GRCh38	Loss	CFHR4 CFHR1
dgv541n100	Chr.1:196801995 - 196913266 on Build GRCh38	Gain	CFHR4 CFHR1
dgv87e199	Chr.1:196753215 - 196853562 on Build GRCh38	Deletion	CFHR1 CFHR3
nsv999866	Chr.1:196798270 - 196832930 on Build GRCh38	Gain+Loss	CFHR1
nsv820836	Chr.1:196747947 - 196852688 on Build GRCh38	Deletion	CFHR1 CFHR3
dgv734n54	Chr.1:196742052 - 196853900 on Build GRCh38	Loss	CFHR1 CFHR3 CFH

More Information

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

Gene Ontology Categories:

Process(es)

complement activation