KY

kyphoscoliosis peptidase

Summary

The protein encoded by this gene belongs to the transglutaminase-like superfamily. The protein is involved in the function, maturation and stabilization of the neuromuscular junction and may be required for normal muscle growth. Mutations in this gene are associated with myopathy, myofibrillar, 7. [provided by RefSeq, Apr 2017]

Known Variants102 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1880374	3:134,322,113	G/A	—	benign
rs1880375	3:134,322,163	C/A	—	benign
rs6800742	3:134,322,217	C/G	—	likely benign
rs1012857901	3:134,322,506	C/A	—	uncertain significance
rs527908164	3:134,322,512	G/C	—	uncertain significance
rs61745335	3:134,322,514	T/C	—	benign
rs199865600	3:134,322,518	C/T	—	conflicting classifications of pathogenicity
rs745454524	3:134,322,629	C/T	—	uncertain significance
rs187345906	3:134,322,630	G/A	—	benign
rs1275322585	3:134,322,634	G/A	—	likely benign
rs147529479	3:134,322,673	G/T	—	uncertain significance
rs367987229	3:134,322,681	C/T	—	uncertain significance
rs2293293	3:134,322,742	A/G	—	benign
rs775888548	3:134,322,755	A/G	—	uncertain significance
rs1203115343	3:134,322,792	C/T	—	uncertain significance
rs34502271	3:134,322,811	C/T	—	benign
rs2293294	3:134,322,814	G/C	—	benign
rs35026874	3:134,322,843	C/T	—	likely benign
rs80161977	3:134,322,844	G/A	—	likely benign
rs35316983	3:134,322,877	A/G	—	likely benign
rs200405017	3:134,322,878	C/T	—	uncertain significance
rs755914324	3:134,322,881	C/T	—	uncertain significance
rs201058595	3:134,322,882	G/A	—	uncertain significance
rs142832129	3:134,322,916	G/A	—	benign
rs369734875	3:134,322,951	C/T	—	uncertain significance
rs2547302943	3:134,322,969	A/G	—	uncertain significance
rs376145121	3:134,323,012	C/T	—	likely benign
rs750312216	3:134,323,033	C/T	—	likely benign
rs2547303316	3:134,323,052	A/G	—	uncertain significance
rs4955535	3:134,323,156	A/G	—	benign
rs2107735424	3:134,323,160	A/T	—	likely pathogenic
rs202148426	3:134,323,274	G/T	—	uncertain significance
rs753136567	3:134,323,276	C/T	—	likely benign
rs6806810	3:134,323,522	G/A	—	benign
rs548777705	3:134,327,303	C/T	—	likely benign
rs752132028	3:134,327,384	G/A	—	likely benign
rs186528841	3:134,327,482	C/T	—	likely benign
rs1015876020	3:134,327,499	A/G	—	uncertain significance
rs189059675	3:134,327,503	T/A	—	likely benign
rs1277892076	3:134,327,557	G/A	—	uncertain significance
rs756787064	3:134,327,561	C/G	—	uncertain significance
rs201201519	3:134,327,593	G/A	—	conflicting classifications of pathogenicity
rs200174527	3:134,327,612	G/A	—	likely benign
rs4955542	3:134,328,740	A/G	—	benign
rs4245905	3:134,328,864	C/T	—	benign
rs79832006	3:134,328,971	A/G	—	likely benign
rs774464040	3:134,329,052	G/C	—	uncertain significance
rs368364006	3:134,329,074	C/T	—	uncertain significance
rs372354601	3:134,329,075	G/A	—	likely benign
rs78316068	3:134,329,151	G/A	—	uncertain significance
rs753733495	3:134,329,221	C/T	—	uncertain significance
rs371732532	3:134,329,229	G/C	—	likely benign
rs75618193	3:134,337,796	T/C	—	likely benign
rs77822640	3:134,337,865	G/A	—	likely benign
rs202115421	3:134,337,986	G/A	—	likely benign
rs775215301	3:134,338,044	C/T	—	conflicting classifications of pathogenicity
rs754690186	3:134,338,068	G/C	—	uncertain significance
rs199921236	3:134,338,098	A/G	—	uncertain significance
rs72974182	3:134,338,166	C/T	—	benign
rs754383672	3:134,339,621	C/T	—	uncertain significance
rs371587266	3:134,339,622	G/A	—	likely benign
rs1348418896	3:134,339,623	C/T	—	uncertain significance
rs188233679	3:134,339,626	A/G	—	conflicting classifications of pathogenicity
rs191999465	3:134,339,675	C/T	—	conflicting classifications of pathogenicity
rs2547356613	3:134,339,678	C/G	—	uncertain significance
rs374014956	3:134,339,738	G/A	—	likely benign
rs115208020	3:134,339,879	T/C	—	likely benign
rs116873221	3:134,339,967	A/C	—	likely benign
rs4440162	3:134,343,688	C/G	—	benign
rs1577695138	3:134,343,887	T/C	—	likely benign
rs762212832	3:134,343,897	G/A	—	pathogenic
rs1295025738	3:134,343,956	C/T	—	uncertain significance
rs373240849	3:134,343,963	G/A	—	pathogenic
rs4435682	3:134,344,182	C/T	—	benign
rs145706524	3:134,346,588	T/G	—	likely benign
rs1324864485	3:134,346,624	C/T	—	uncertain significance
rs763339668	3:134,346,625	G/A	—	uncertain significance
rs763656363	3:134,346,643	T/A	—	uncertain significance
rs753472064	3:134,346,651	C/T	—	uncertain significance
rs141346785	3:134,348,441	T/C	—	likely benign
rs2547380912	3:134,348,458	C/A	—	uncertain significance
rs751530495	3:134,348,507	C/T	—	uncertain significance
rs946491659	3:134,348,529	G/A	—	likely benign
rs777981227	3:134,348,540	A/G	—	likely benign
rs62270962	3:134,348,638	A/C	—	benign
rs74646137	3:134,348,737	G/T	—	likely benign
rs13083717	3:134,348,796	G/A	—	benign
rs371986021	3:134,362,202	T/C	—	uncertain significance
rs143343477	3:134,366,115	C/A	—	likely benign
rs763887026	3:134,366,313	G/A	—	uncertain significance
rs2547424328	3:134,366,341	T/C	—	uncertain significance
rs6782232	3:134,366,420	G/A	—	benign
rs113520527	3:134,366,428	A/G	—	likely benign
rs1868164	3:134,369,420	A/G	—	benign
rs745313504	3:134,369,680	C/T	—	likely benign
rs778117321	3:134,369,684	A/T	—	uncertain significance
rs748047746	3:134,369,686	C/G	—	likely benign
rs373172556	3:134,369,693	G/A	—	uncertain significance
rs13060869	3:134,369,716	C/A	—	benign
rs562701089	3:134,369,719	A/G	—	likely benign

Showing 100 of 102 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.