MYL3

myosin light chain 3

Summary

MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]

Known Variants335 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs886058581	3:46,899,400	G/T	—	uncertain significance
rs764865767	3:46,899,465	G/A	—	uncertain significance
rs546968708	3:46,899,493	G/T	—	uncertain significance
rs1042973	3:46,899,516	C/T	—	benign
rs199474710	3:46,899,578	C/T	—	likely benign
rs2106904116	3:46,899,681	C/A	—	benign
rs200422816	3:46,899,716	C/G	—	likely benign
rs750826728	3:46,899,721	C/T	—	uncertain significance
rs202234617	3:46,899,725	G/A	—	conflicting classifications of pathogenicity
rs754568155	3:46,899,728	C/T	—	uncertain significance
rs727505197	3:46,899,729	G/A	—	conflicting classifications of pathogenicity
rs748154150	3:46,899,731	G/A	—	benign
rs2544962680	3:46,899,733	T/G	—	uncertain significance
rs1701951849	3:46,899,740	G/A	—	likely benign
rs1701951962	3:46,899,743	C/T	—	uncertain significance
rs1701951996	3:46,899,745	T/C	—	uncertain significance
rs1179240189	3:46,899,747	A/T	—	uncertain significance
rs2544962722	3:46,899,750	T/G	—	uncertain significance
rs869025487	3:46,899,751	G/C	—	uncertain significance
rs1701953031	3:46,899,754	T/C	—	uncertain significance
rs1701953062	3:46,899,755	C/T	—	likely benign
rs1701953138	3:46,899,763	C/T	—	uncertain significance
rs869025488	3:46,899,765	G/A	—	uncertain significance
rs772933222	3:46,899,769	A/G	—	likely benign
rs749105574	3:46,899,772	A/C	—	likely benign
rs1041055773	3:46,899,777	A/C	—	conflicting classifications of pathogenicity
rs760655445	3:46,899,792	A/G	—	benign
rs749013158	3:46,899,854	C/T	—	likely benign
rs552393482	3:46,899,855	C/T	—	benign
rs199474709	3:46,899,868	G/A	—	likely benign
rs1575497401	3:46,899,872	A/G	—	uncertain significance
rs374329098	3:46,899,876	T/G	—	uncertain significance
rs2544962959	3:46,899,877	C/T	—	uncertain significance
rs769009588	3:46,899,878	A/G	—	likely benign
rs2106904797	3:46,899,880	A/T	—	uncertain significance
rs140829951	3:46,899,881	G/A	—	likely benign
rs2544962977	3:46,899,882	T/C	—	uncertain significance
rs963631094	3:46,899,884	G/A	—	likely benign
rs1701955108	3:46,899,887	G/A	—	likely benign
rs2544962999	3:46,899,892	C/T	—	uncertain significance
rs2544963005	3:46,899,893	A/C	—	uncertain significance
rs1575497410	3:46,899,894	T/C	—	uncertain significance
rs1701955175	3:46,899,897	G/T	—	uncertain significance
rs145520567	3:46,899,901	C/T	missense variant	pathogenic
rs193922391	3:46,899,903	T/C	missense variant	uncertain significance
rs763216044	3:46,899,912	G/A	—	uncertain significance
rs397516279	3:46,899,913	C/G	—	uncertain significance
rs730880962	3:46,899,915	A/G	missense variant	uncertain significance
rs199474708	3:46,899,916	T/C	missense variant	uncertain significance
rs367761724	3:46,899,917	C/T	—	likely benign
rs1390485854	3:46,899,919	A/G	—	likely benign
rs1701955809	3:46,899,921	T/G	—	uncertain significance
rs864622538	3:46,899,925	C/T	—	uncertain significance
rs1166390418	3:46,899,926	C/T	—	likely benign
rs2544963107	3:46,899,928	C/G	—	uncertain significance
rs1575497436	3:46,899,929	T/C	—	likely benign
rs2544963115	3:46,899,930	T/G	—	uncertain significance
rs1376871183	3:46,899,931	C/T	—	uncertain significance
rs552824036	3:46,899,932	G/A	—	likely benign
rs1701956074	3:46,899,934	C/T	—	uncertain significance
rs1701956180	3:46,899,939	G/C	—	uncertain significance
rs767179578	3:46,899,943	G/A	—	likely benign
rs752165383	3:46,899,945	C/T	—	uncertain significance
rs2106905119	3:46,899,946	T/C	—	uncertain significance
rs2544963155	3:46,899,947	C/G	—	uncertain significance
rs371642547	3:46,899,949	C/T	—	uncertain significance
rs1345959283	3:46,899,950	A/C	—	likely benign
rs1057518300	3:46,899,951	C/T	—	uncertain significance
rs727503300	3:46,899,952	C/T	—	uncertain significance
rs111617556	3:46,899,953	T/C	—	not provided
rs730880163	3:46,899,957	A/G	—	uncertain significance
rs1559519895	3:46,899,960	A/T	—	uncertain significance
rs567723663	3:46,899,961	G/A	—	pathogenic
rs201780962	3:46,899,965	G/T	—	likely benign
rs201289145	3:46,899,968	G/A	—	likely benign
rs1055139411	3:46,899,969	C/T	—	likely benign
rs199811108	3:46,899,971	G/A	—	likely benign
rs3729704	3:46,900,051	G/A	—	benign
rs924025543	3:46,900,948	G/A	—	likely benign
rs1701966300	3:46,900,950	G/A	—	likely benign
rs1575497732	3:46,900,955	C/G	—	likely benign
rs1005891266	3:46,900,960	C/T	—	uncertain significance
rs1217945186	3:46,900,961	T/C	—	uncertain significance
rs1356433667	3:46,900,965	C/A	—	uncertain significance
rs2544964815	3:46,900,966	C/T	—	uncertain significance
rs148365503	3:46,900,969	C/A	—	likely benign
rs748832105	3:46,900,970	G/A	—	uncertain significance
rs2544964843	3:46,900,971	T/A	—	uncertain significance
rs199474707	3:46,900,980	C/A	missense variant	pathogenic
rs147125759	3:46,900,981	G/A	—	likely benign
rs2544964889	3:46,900,982	T/A	—	uncertain significance
rs199474706	3:46,900,983	G/C	missense variant	pathogenic
rs104893749	3:46,900,985	C/T	missense variant	uncertain significance
rs143852164	3:46,900,986	G/A	missense variant	pathogenic
rs1064793448	3:46,900,989	—	—	pathogenic
rs777855362	3:46,900,990	C/A	—	uncertain significance
rs199474705	3:46,900,992	C/T	missense variant	pathogenic
rs876657895	3:46,900,994	G/A	—	uncertain significance
rs869025486	3:46,900,995	C/T	missense variant	pathogenic
rs1401349000	3:46,900,996	A/G	—	likely benign

Showing 100 of 335 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.