ALAS2

5'-aminolevulinate synthase 2

Summary

The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Known Variants238 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs145843014	X:55,035,489	G/A	—	likely benign
rs6612250	X:55,035,557	T/G	—	benign
rs139596860	X:55,035,620	T/A	missense variant	pathogenic
rs2146711671	X:55,035,635	T/C	—	uncertain significance
rs1189487849	X:55,035,652	G/A	—	likely benign
rs201799139	X:55,035,659	G/A	—	likely benign
rs137852306	X:55,035,675	T/C	missense variant	pathogenic
rs387906473	X:55,035,677	—	—	pathogenic
rs863223906	X:55,035,678	T/C	missense variant	pathogenic
rs1241366449	X:55,035,681	G/A	—	uncertain significance
rs149747514	X:55,035,682	C/G	—	conflicting classifications of pathogenicity
rs1057524863	X:55,035,684	C/G	—	uncertain significance
rs2519570750	X:55,035,692	A/G	—	uncertain significance
rs892041887	X:55,035,698	C/T	—	uncertain significance
rs778388971	X:55,035,699	G/A	—	uncertain significance
rs145704441	X:55,035,701	C/T	missense variant	likely benign
rs35075981	X:55,035,730	A/G	—	likely benign
rs397514730	X:55,035,735	G/A	stop gained	pathogenic
rs763266087	X:55,035,739	G/C	—	uncertain significance
rs6612251	X:55,035,751	C/T	—	benign
rs780775232	X:55,035,752	G/A	—	uncertain significance
rs752651302	X:55,035,754	A/G	—	likely benign
rs760438491	X:55,035,755	G/A	—	uncertain significance
rs763862539	X:55,035,756	T/A	—	uncertain significance
rs1255257101	X:55,035,783	G/A	—	likely benign
rs7881427	X:55,039,604	T/C	—	benign
rs12008515	X:55,039,765	C/T	—	likely benign
rs2146715075	X:55,039,948	T/C	—	likely pathogenic
rs137852309	X:55,039,949	G/C	missense variant	pathogenic
rs760600379	X:55,039,950	G/A	—	likely benign
rs199826743	X:55,039,952	G/A	—	conflicting classifications of pathogenicity
rs761546961	X:55,039,956	G/A	—	likely benign
rs150055592	X:55,039,959	G/T	—	conflicting classifications of pathogenicity
rs201062903	X:55,039,960	G/A	—	conflicting classifications of pathogenicity
rs750969990	X:55,039,973	G/A	—	likely benign
rs200994350	X:55,039,985	C/T	—	uncertain significance
rs372675935	X:55,039,987	C/T	—	conflicting classifications of pathogenicity
rs2519576272	X:55,040,000	G/A	—	uncertain significance
rs377127748	X:55,040,010	G/A	—	likely benign
rs1602244633	X:55,040,019	A/G	—	conflicting classifications of pathogenicity
rs2519576302	X:55,040,020	T/C	—	pathogenic
rs746092559	X:55,040,054	G/C	—	uncertain significance
rs772107960	X:55,040,061	G/A	—	uncertain significance
rs2519576386	X:55,040,078	C/T	—	uncertain significance
rs45468097	X:55,040,097	A/G	—	likely benign
rs199765340	X:55,040,100	C/G	—	benign
rs370873682	X:55,041,172	G/C	—	likely benign
rs2146716381	X:55,041,180	C/G	—	uncertain significance
rs141305388	X:55,041,181	C/T	—	likely benign
rs776595485	X:55,041,182	G/A	—	uncertain significance
rs137852299	X:55,041,190	A/T	missense variant	pathogenic
rs2519577792	X:55,041,204	G/A	—	likely benign
rs1390451223	X:55,041,206	A/G	—	uncertain significance
rs1935670559	X:55,041,209	G/A	—	uncertain significance
rs1027728516	X:55,041,216	A/G	—	likely benign
rs773075387	X:55,041,222	G/A	—	likely benign
rs1935671225	X:55,041,235	A/T	—	likely pathogenic
rs1935671478	X:55,041,244	C/T	—	uncertain significance
rs759169409	X:55,041,245	G/A	—	uncertain significance
rs1480028429	X:55,041,260	T/G	—	uncertain significance
rs863223904	X:55,041,262	C/A	missense variant	pathogenic
rs137852311	X:55,041,263	G/T	missense variant	pathogenic
rs754465437	X:55,041,267	G/A	—	likely benign
rs765603040	X:55,041,282	G/A	—	conflicting classifications of pathogenicity
rs760790600	X:55,041,296	C/T	—	likely benign
rs758646032	X:55,041,299	C/G	—	conflicting classifications of pathogenicity
rs2146716517	X:55,041,302	T/C	—	uncertain significance
rs755107298	X:55,041,320	C/T	—	uncertain significance
rs2519578090	X:55,041,341	T/C	—	uncertain significance
rs2519578109	X:55,041,343	G/A	—	uncertain significance
rs1350671858	X:55,041,344	G/A	—	uncertain significance
rs1193324953	X:55,041,360	A/G	—	likely benign
rs143328343	X:55,041,373	G/A	—	conflicting classifications of pathogenicity
rs2519578166	X:55,041,385	C/T	—	uncertain significance
rs137852305	X:55,041,386	G/A	missense variant	pathogenic
rs1241455019	X:55,041,406	C/T	—	conflicting classifications of pathogenicity
rs2146716611	X:55,041,410	T/C	—	uncertain significance
rs2146716626	X:55,041,425	C/T	—	uncertain significance
rs137852307	X:55,041,433	C/T	missense variant	pathogenic
rs771785963	X:55,041,452	G/T	—	likely benign
rs760052142	X:55,041,463	G/T	—	likely benign
rs17250674	X:55,041,605	G/A	—	benign
rs144844061	X:55,041,657	T/A	—	likely benign
rs751844260	X:55,041,992	G/T	—	uncertain significance
rs140584437	X:55,042,012	A/C	—	benign
rs137852300	X:55,042,016	G/C	missense variant	pathogenic
rs1057522832	X:55,042,019	C/G	missense variant	pathogenic
rs1935685338	X:55,042,027	G/T	—	likely benign
rs863223903	X:55,042,043	A/G	missense variant	pathogenic
rs752853849	X:55,042,055	C/T	—	uncertain significance
rs368764287	X:55,042,072	G/A	—	benign
rs371716491	X:55,042,076	C/T	—	conflicting classifications of pathogenicity
rs863223902	X:55,042,086	A/G	missense variant	pathogenic
rs150494562	X:55,042,087	C/T	—	benign
rs1935686442	X:55,042,095	C/T	—	uncertain significance
rs138657159	X:55,042,099	A/G	—	likely benign
rs863223905	X:55,042,100	T/C	missense variant	—
rs373739339	X:55,042,105	C/T	—	likely benign
rs2519579509	X:55,042,113	C/T	—	uncertain significance
rs201740830	X:55,042,117	G/C	—	benign

Showing 100 of 238 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.