SLC13A5

solute carrier family 13 member 5

Summary

This gene encodes a protein belonging to the solute carrier family 13 group of proteins. This family member is a sodium-dependent citrate cotransporter that may regulate metabolic processes. Mutations in this gene cause early infantile epileptic encephalopathy 25. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]

Known Variants605 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs16956117	17:6,589,211	C/T	—	benign
rs218689	17:6,589,350	A/T	—	benign
rs16956120	17:6,589,495	A/G	—	benign
rs2150960732	17:6,589,528	A/G	—	uncertain significance
rs1064796705	17:6,589,532	C/G	—	uncertain significance
rs771551520	17:6,589,542	G/A	—	uncertain significance
rs1567612268	17:6,589,544	C/T	—	likely benign
rs1973247421	17:6,589,546	C/T	—	uncertain significance
rs2544602804	17:6,589,547	A/G	—	likely benign
rs769020153	17:6,589,560	G/A	—	uncertain significance
rs1453393447	17:6,589,579	A/T	—	uncertain significance
rs373799811	17:6,589,587	C/T	—	uncertain significance
rs770090939	17:6,589,588	G/A	—	uncertain significance
rs2544602963	17:6,589,590	C/T	—	uncertain significance
rs1448653288	17:6,589,598	G/C	—	uncertain significance
rs1597651519	17:6,589,601	G/A	—	likely benign
rs766561824	17:6,589,604	A/G	—	likely benign
rs202208840	17:6,589,605	G/T	—	uncertain significance
rs2150960826	17:6,589,606	C/A	—	uncertain significance
rs2544603042	17:6,589,609	A/G	—	likely benign
rs1567612345	17:6,589,611	A/G	—	uncertain significance
rs1597651569	17:6,589,618	A/G	—	uncertain significance
rs2544603102	17:6,589,627	C/T	—	uncertain significance
rs1234607889	17:6,589,631	T/C	—	uncertain significance
rs1973250507	17:6,589,633	T/C	—	uncertain significance
rs1973250595	17:6,589,634	G/T	—	uncertain significance
rs753629596	17:6,589,642	T/C	—	uncertain significance
rs2544603162	17:6,589,648	C/T	—	uncertain significance
rs764993670	17:6,589,649	T/C	—	likely benign
rs569395560	17:6,589,651	T/C	—	uncertain significance
rs1392358462	17:6,589,661	G/C	—	conflicting classifications of pathogenicity
rs377340234	17:6,589,670	C/T	—	likely benign
rs2150960911	17:6,589,677	A/T	—	likely benign
rs218690	17:6,589,883	T/C	—	benign
rs112859498	17:6,590,808	G/A	—	likely benign
rs139509544	17:6,590,820	T/C	—	likely benign
rs748598074	17:6,590,836	C/T	—	likely benign
rs576242281	17:6,590,838	G/T	—	likely benign
rs1252888019	17:6,590,840	T/C	—	likely benign
rs778223098	17:6,590,843	G/A	—	uncertain significance
rs1378934738	17:6,590,844	T/A	—	uncertain significance
rs749545913	17:6,590,850	T/G	—	uncertain significance
rs863225448	17:6,590,853	C/G	missense variant	pathogenic
rs1221511903	17:6,590,859	C/T	—	uncertain significance
rs1597653033	17:6,590,860	C/T	—	likely benign
rs771239934	17:6,590,863	G/T	—	likely benign
rs779246920	17:6,590,865	G/C	—	uncertain significance
rs776701159	17:6,590,882	A/G	—	uncertain significance
rs201089077	17:6,590,883	C/T	—	uncertain significance
rs1973282772	17:6,590,887	G/A	—	likely benign
rs762703163	17:6,590,893	T/C	—	likely benign
rs2150961768	17:6,590,899	G/A	—	likely benign
rs751195634	17:6,590,904	C/A	—	uncertain significance
rs936922976	17:6,590,909	G/A	—	conflicting classifications of pathogenicity
rs759151984	17:6,590,913	A/G	—	likely benign
rs765088400	17:6,590,915	A/G	—	uncertain significance
rs949451311	17:6,590,926	G/T	—	likely benign
rs1046475172	17:6,590,929	G/A	—	likely benign
rs907914369	17:6,590,938	G/C	—	likely benign
rs2544605785	17:6,590,939	G/A	—	uncertain significance
rs1057519449	17:6,590,948	A/G	missense variant	pathogenic
rs1973284945	17:6,590,952	T/G	—	uncertain significance
rs2150961827	17:6,590,955	T/C	—	uncertain significance
rs587777578	17:6,590,960	A/G	missense variant	pathogenic
rs754295995	17:6,590,961	G/T	—	uncertain significance
rs374067396	17:6,590,962	C/T	—	likely benign
rs779336736	17:6,590,963	G/A	—	conflicting classifications of pathogenicity
rs746077894	17:6,590,966	T/C	—	uncertain significance
rs2544605897	17:6,590,968	G/A	—	likely benign
rs148049520	17:6,590,969	A/G	—	uncertain significance
rs779942374	17:6,590,973	C/T	—	uncertain significance
rs769760541	17:6,590,974	G/A	—	likely benign
rs143719876	17:6,590,976	T/C	—	uncertain significance
rs1236635295	17:6,590,978	G/A	—	uncertain significance
rs762789388	17:6,590,981	C/T	—	conflicting classifications of pathogenicity
rs555139145	17:6,590,982	G/A	—	uncertain significance
rs2150961873	17:6,590,985	A/G	—	uncertain significance
rs2544605962	17:6,590,987	T/C	—	likely pathogenic
rs1973286161	17:6,590,988	G/T	—	uncertain significance
rs901014442	17:6,590,989	C/A	—	uncertain significance
rs368120301	17:6,590,990	G/A	—	likely benign
rs2544606036	17:6,591,004	G/A	—	likely benign
rs1329698702	17:6,591,005	C/T	—	likely benign
rs78203589	17:6,591,041	C/T	—	likely benign
rs16956138	17:6,591,067	C/T	—	benign
rs218692	17:6,591,098	T/A	—	benign
rs3744394	17:6,591,149	C/T	—	benign
rs73976238	17:6,593,818	G/A	—	likely benign
rs218696	17:6,593,922	C/T	—	benign
rs218697	17:6,594,014	C/T	—	benign
rs1410190409	17:6,594,078	C/T	—	likely benign
rs371350083	17:6,594,080	C/T	—	likely benign
rs1216705623	17:6,594,089	G/A	—	likely benign
rs745564000	17:6,594,098	C/T	—	uncertain significance
rs1450058801	17:6,594,107	A/G	—	likely benign
rs1223917376	17:6,594,112	T/C	—	uncertain significance
rs2150964713	17:6,594,113	G/A	—	likely benign
rs777285678	17:6,594,115	G/A	—	uncertain significance
rs2544612379	17:6,594,121	A/G	—	uncertain significance
rs1209800037	17:6,594,124	A/C	—	uncertain significance

Showing 100 of 605 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.