SERPINB7

serpin family B member 7

Summary

This gene encodes a member of a family of proteins which function as protease inhibitors. Expression of this gene is upregulated in IgA nephropathy and mutations have been found to cause palmoplantar keratoderma, Nagashima type. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

Known Variants64 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs181586446	18:61,429,610	C/A	regulatory region variant	—
rs938180904	18:61,449,630	T/C	—	likely benign
rs145018483	18:61,449,714	C/T	—	likely benign
rs1568207063	18:61,449,727	C/G	—	uncertain significance
rs994159784	18:61,449,738	G/A	—	likely benign
rs199555021	18:61,449,763	C/T	—	pathogenic
rs770266684	18:61,449,774	G/T	—	uncertain significance
rs1720843	18:61,458,688	C/G	intron variant	—
rs1720844	18:61,459,366	G/A	—	benign
rs1720845	18:61,459,416	A/G	—	benign
rs746183078	18:61,459,619	G/C	—	likely benign
rs74653657	18:61,459,639	A/G	—	benign
rs1043654822	18:61,459,643	C/G	—	uncertain significance
rs545808881	18:61,459,663	T/C	—	uncertain significance
rs373796717	18:61,459,671	T/A	—	uncertain significance
rs1720846	18:61,460,070	G/A	—	benign
rs1701631	18:61,460,286	A/T	—	benign
rs372450614	18:61,460,395	T/C	—	conflicting classifications of pathogenicity
rs61761885	18:61,460,398	G/A	—	uncertain significance
rs761391967	18:61,460,485	G/C	—	uncertain significance
rs150622921	18:61,463,481	A/G	—	benign
rs35672333	18:61,463,523	A/G	—	likely benign
rs763385808	18:61,463,529	C/T	—	likely benign
rs200984633	18:61,463,552	A/T	—	uncertain significance
rs148879660	18:61,463,579	G/C	—	uncertain significance
rs371023956	18:61,463,581	C/T	—	uncertain significance
rs1701648	18:61,463,784	G/T	—	benign
rs1720858	18:61,465,810	A/G	—	benign
rs769356394	18:61,465,821	A/T	—	likely benign
rs577442939	18:61,465,837	G/A	splice region variant	pathogenic
rs748998320	18:61,465,916	A/G	—	uncertain significance
rs2511621358	18:61,465,946	G/A	—	uncertain significance
rs371584106	18:61,465,948	G/A	—	uncertain significance
rs369236570	18:61,465,988	G/A	—	likely benign
rs1720857	18:61,466,024	C/T	—	benign
rs1720856	18:61,466,058	T/C	—	benign
rs2658459	18:61,468,085	T/A	—	benign
rs2511623249	18:61,468,113	C/G	—	uncertain significance
rs528238167	18:61,468,127	C/A	—	uncertain significance
rs374610296	18:61,468,136	C/G	—	uncertain significance
rs946302760	18:61,468,139	A/G	—	uncertain significance
rs374307655	18:61,468,141	G/T	—	uncertain significance
rs140159962	18:61,468,216	C/T	—	likely benign
rs374861587	18:61,468,217	G/A	—	uncertain significance
rs756620605	18:61,468,255	C/T	—	likely benign
rs2689399	18:61,468,306	G/C	—	benign
rs189807702	18:61,471,452	C/G	—	benign
rs142859678	18:61,471,522	C/T	stop gained	pathogenic
rs17782413	18:61,471,523	G/A	—	benign
rs61735186	18:61,471,529	C/T	—	benign
rs150696599	18:61,471,559	A/G	—	uncertain significance
rs11873045	18:61,471,593	A/G	—	benign
rs766828781	18:61,471,603	G/T	—	uncertain significance
rs149824494	18:61,471,657	G/A	—	uncertain significance
rs34505921	18:61,471,662	G/T	—	benign
rs2511626655	18:61,471,675	T/C	—	uncertain significance
rs746145064	18:61,471,712	T/G	—	uncertain significance
rs61761887	18:61,471,718	A/C	—	uncertain significance
rs1173311938	18:61,471,771	C/T	—	uncertain significance
rs751578467	18:61,471,784	C/T	—	uncertain significance
rs1199002446	18:61,471,861	T/C	—	uncertain significance
rs201208667	18:61,471,862	G/A	—	uncertain significance
rs1055901	18:61,472,455	T/G	—	—
rs1055902	18:61,472,543	C/T	3 prime UTR variant	—

Gene information from NCBI Gene. Variant classifications from ClinVar.