SLC4A11

solute carrier family 4 member 11

Summary

This gene encodes a voltage-regulated, electrogenic sodium-coupled borate cotransporter that is essential for borate homeostasis, cell growth and cell proliferation. Mutations in this gene have been associated with a number of endothelial corneal dystrophies including recessive corneal endothelial dystrophy 2, corneal dystrophy and perceptive deafness, and Fuchs endothelial corneal dystrophy. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010]

Known Variants863 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs776616609	20:3,208,082	G/A	—	uncertain significance
rs148964021	20:3,208,110	G/A	—	uncertain significance
rs77978636	20:3,208,208	G/A	—	likely benign
rs143751993	20:3,208,324	G/A	—	uncertain significance
rs6051657	20:3,208,399	G/A	—	benign
rs148132505	20:3,208,406	G/A	—	uncertain significance
rs76962118	20:3,208,451	G/A	—	benign
rs1217510942	20:3,208,459	C/T	—	uncertain significance
rs1279887668	20:3,208,466	G/A	—	likely benign
rs2514503408	20:3,208,469	C/T	—	likely benign
rs201771042	20:3,208,486	G/A	—	likely pathogenic
rs771230452	20:3,208,490	C/T	—	likely benign
rs2122487209	20:3,208,492	G/A	—	likely benign
rs2514503723	20:3,208,504	T/C	—	likely pathogenic
rs2067581171	20:3,208,506	T/C	—	likely benign
rs561993804	20:3,208,507	G/A	—	likely benign
rs2514503882	20:3,208,512	G/A	—	likely benign
rs2514503903	20:3,208,514	G/C	—	likely benign
rs1030762525	20:3,208,518	G/A	—	likely benign
rs765705738	20:3,208,520	C/G	—	likely benign
rs1360266791	20:3,208,522	G/A	—	likely benign
rs115581878	20:3,208,888	T/A	—	benign
rs2514512364	20:3,208,889	G/T	—	likely benign
rs770217478	20:3,208,893	A/T	—	conflicting classifications of pathogenicity
rs367936492	20:3,208,897	G/T	—	likely benign
rs371909885	20:3,208,904	C/T	—	pathogenic
rs121909392	20:3,208,905	C/T	missense variant	pathogenic
rs121909391	20:3,208,906	G/A	missense variant	pathogenic
rs750109559	20:3,208,907	G/T	—	likely benign
rs886056631	20:3,208,909	T/C	—	uncertain significance
rs2514512765	20:3,208,910	G/A	—	likely benign
rs555765616	20:3,208,922	G/A	—	likely benign
rs1382271458	20:3,208,928	G/A	—	likely benign
rs2067609424	20:3,208,931	G/A	—	likely benign
rs1472147389	20:3,208,934	G/A	—	likely benign
rs121909396	20:3,208,945	T/C	missense variant	pathogenic
rs1008052074	20:3,208,946	C/T	—	likely benign
rs373679606	20:3,208,951	T/C	—	uncertain significance
rs1568526892	20:3,208,958	C/T	—	likely benign
rs1209189688	20:3,208,960	G/A	—	likely benign
rs34224785	20:3,208,967	C/T	—	conflicting classifications of pathogenicity
rs761356123	20:3,208,973	G/A	—	likely benign
rs1420236362	20:3,208,982	C/T	—	likely benign
rs121909394	20:3,208,983	A/G	missense variant	pathogenic
rs2514513897	20:3,208,985	C/T	—	likely benign
rs2122499204	20:3,208,987	G/A	—	likely benign
rs2067612587	20:3,208,991	C/T	—	likely benign
rs371516913	20:3,209,000	C/T	—	likely benign
rs2067613337	20:3,209,009	G/C	—	likely benign
rs144586846	20:3,209,011	C/T	—	uncertain significance
rs58757394	20:3,209,012	C/T	—	likely benign
rs1422526172	20:3,209,013	G/A	—	likely pathogenic
rs1326593216	20:3,209,024	G/T	—	likely benign
rs2067614447	20:3,209,027	C/T	—	likely benign
rs2514514540	20:3,209,036	G/C	—	likely benign
rs1302744793	20:3,209,039	C/A	—	likely benign
rs757244518	20:3,209,041	C/T	—	pathogenic
rs1354771991	20:3,209,048	G/A	—	likely benign
rs899552076	20:3,209,051	G/A	—	likely benign
rs575052406	20:3,209,060	C/T	—	likely benign
rs749716713	20:3,209,063	G/A	—	likely benign
rs1437538244	20:3,209,066	G/A	—	likely benign
rs769162860	20:3,209,069	C/T	—	likely benign
rs7262506	20:3,209,072	A/C	—	conflicting classifications of pathogenicity
rs748689368	20:3,209,075	C/T	—	pathogenic
rs762782747	20:3,209,082	C/G	—	likely benign
rs41281858	20:3,209,083	A/G	—	uncertain significance
rs2514515512	20:3,209,084	G/C	—	likely benign
rs770613155	20:3,209,089	G/A	—	likely benign
rs2067618082	20:3,209,091	C/T	—	likely benign
rs372558784	20:3,209,092	C/T	—	likely benign
rs200427135	20:3,209,093	G/A	—	likely benign
rs981419000	20:3,209,094	G/C	—	likely benign
rs150730141	20:3,209,139	C/T	—	benign
rs777119648	20:3,209,140	G/A	—	likely benign
rs1403707205	20:3,209,143	G/A	—	likely benign
rs2067621348	20:3,209,144	G/C	—	likely benign
rs368952088	20:3,209,147	C/A	—	likely benign
rs117959552	20:3,209,151	C/T	—	conflicting classifications of pathogenicity
rs995235180	20:3,209,161	C/T	—	likely benign
rs769563047	20:3,209,167	G/A	—	likely benign
rs183825927	20:3,209,176	G/A	—	likely benign
rs145325200	20:3,209,181	C/T	—	uncertain significance
rs760765729	20:3,209,182	G/A	—	likely benign
rs766567944	20:3,209,183	C/T	—	likely pathogenic
rs754052581	20:3,209,184	G/A	—	uncertain significance
rs755312854	20:3,209,191	G/A	—	conflicting classifications of pathogenicity
rs1335324642	20:3,209,196	G/A	—	pathogenic
rs199634796	20:3,209,206	G/A	—	conflicting classifications of pathogenicity
rs2514517376	20:3,209,209	G/A	—	likely benign
rs764272881	20:3,209,211	A/G	missense variant	—
rs1568527712	20:3,209,215	G/T	—	likely benign
rs201769127	20:3,209,218	C/T	—	likely benign
rs769476180	20:3,209,221	G/A	—	likely benign
rs2067625696	20:3,209,224	G/A	—	likely benign
rs1600558914	20:3,209,230	G/A	—	likely benign
rs2514517800	20:3,209,239	A/G	—	likely benign
rs2067626463	20:3,209,248	G/C	—	likely benign
rs2122504020	20:3,209,251	C/T	—	likely benign
rs139086376	20:3,209,254	G/C	—	likely benign

Showing 100 of 863 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.