HMBS

hydroxymethylbilane synthase

Summary

This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Known Variants462 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs7924387	11:118,954,265	G/A	downstream gene variant	—
rs2497391438	11:118,955,303	G/A	—	uncertain significance
rs1592207763	11:118,955,304	T/G	—	uncertain significance
rs2497391469	11:118,955,305	G/T	—	uncertain significance
rs592190	11:118,955,314	G/A	—	benign
rs1280331538	11:118,955,317	G/T	—	uncertain significance
rs59972888	11:118,955,323	G/A	—	benign
rs1417977595	11:118,955,413	C/G	—	uncertain significance
rs686624	11:118,955,509	T/A	—	benign
rs72997366	11:118,955,641	C/T	—	benign
rs589925	11:118,955,679	C/T	—	benign
rs201349602	11:118,955,716	A/C	—	conflicting classifications of pathogenicity
rs118204118	11:118,955,744	A/G	missense variant	pathogenic
rs1361338844	11:118,955,747	T/C	—	uncertain significance
rs1565750711	11:118,955,756	G/A	—	uncertain significance
rs2497397122	11:118,955,765	G/A	—	uncertain significance
rs2497397150	11:118,955,768	G/A	—	uncertain significance
rs148084355	11:118,955,769	C/A	—	conflicting classifications of pathogenicity
rs782487780	11:118,955,770	A/G	—	likely benign
rs782647894	11:118,955,772	C/T	—	conflicting classifications of pathogenicity
rs782243560	11:118,955,773	G/A	—	likely benign
rs142812375	11:118,955,774	G/A	—	likely benign
rs2497397284	11:118,955,775	C/T	—	uncertain significance
rs1592208560	11:118,955,776	G/C	—	uncertain significance
rs1565750784	11:118,955,777	G/A	—	pathogenic
rs782201645	11:118,955,778	T/G	—	pathogenic
rs1485199965	11:118,955,784	C/G	—	likely benign
rs569415770	11:118,955,785	T/C	—	likely benign
rs2497397451	11:118,955,786	G/C	—	likely benign
rs372520245	11:118,955,791	G/A	—	likely benign
rs782155487	11:118,955,794	G/A	—	likely benign
rs199862927	11:118,955,796	C/G	—	benign
rs2497404079	11:118,956,445	A/G	—	uncertain significance
rs1799992	11:118,957,246	T/C	downstream gene variant	—
rs141949189	11:118,957,388	A/G	—	—
rs537044660	11:118,958,716	C/T	—	—
rs1006195	11:118,958,869	G/T	—	benign
rs373887553	11:118,958,940	T/C	—	likely benign
rs2134854269	11:118,958,949	G/A	—	likely benign
rs2497421400	11:118,958,956	T/A	—	uncertain significance
rs369827610	11:118,958,962	C/T	—	uncertain significance
rs759804278	11:118,958,966	A/C	—	uncertain significance
rs2497421539	11:118,958,969	A/G	—	uncertain significance
rs369183430	11:118,958,973	C/T	—	likely benign
rs2497421693	11:118,958,987	G/C	—	uncertain significance
rs1946135275	11:118,958,992	A/T	—	uncertain significance
rs189159450	11:118,958,995	C/T	—	conflicting classifications of pathogenicity
rs760087108	11:118,958,996	G/A	—	uncertain significance
rs531691068	11:118,958,997	C/T	—	benign
rs776931683	11:118,958,998	G/A	—	uncertain significance
rs2497421927	11:118,959,002	G/A	—	likely pathogenic
rs2497421979	11:118,959,005	C/T	—	uncertain significance
rs1252084629	11:118,959,006	C/T	—	likely benign
rs998842815	11:118,959,007	C/T	—	pathogenic
rs118204103	11:118,959,008	G/A	missense variant	pathogenic
rs762409662	11:118,959,015	C/T	—	likely benign
rs2497422220	11:118,959,017	A/G	—	uncertain significance
rs2134854656	11:118,959,019	G/A	—	pathogenic
rs2134854665	11:118,959,020	T/G	—	pathogenic
rs765786093	11:118,959,022	G/A	—	uncertain significance
rs373655010	11:118,959,031	G/T	—	likely benign
rs1946137667	11:118,959,032	C/T	—	likely benign
rs376644500	11:118,959,033	C/T	—	likely benign
rs766576565	11:118,959,034	G/A	—	likely benign
rs1144041	11:118,959,280	T/C	—	benign
rs17075	11:118,959,331	A/G	—	benign
rs1946149970	11:118,959,336	T/C	—	likely benign
rs745652348	11:118,959,338	C/T	—	likely benign
rs756056009	11:118,959,340	C/T	—	likely benign
rs201754864	11:118,959,341	G/A	—	likely benign
rs2134856203	11:118,959,342	C/T	—	uncertain significance
rs2497425796	11:118,959,343	A/G	—	pathogenic
rs118204104	11:118,959,348	G/A	missense variant	pathogenic
rs779792232	11:118,959,351	C/T	—	uncertain significance
rs746673847	11:118,959,352	G/A	—	uncertain significance
rs118204105	11:118,959,357	C/A	missense variant	pathogenic
rs974712040	11:118,959,361	C/T	—	likely pathogenic
rs370081222	11:118,959,362	G/A	—	uncertain significance
rs2497426121	11:118,959,367	G/A	—	uncertain significance
rs1450114469	11:118,959,380	A/T	—	likely benign
rs373652991	11:118,959,381	T/A	—	uncertain significance
rs2497426310	11:118,959,382	T/C	—	pathogenic
rs563428135	11:118,959,389	C/T	—	benign
rs138776835	11:118,959,391	C/T	—	likely benign
rs146801283	11:118,959,392	G/A	—	likely benign
rs2134856747	11:118,959,405	C/T	—	pathogenic
rs765251645	11:118,959,406	A/C	—	uncertain significance
rs368061837	11:118,959,417	A/C	—	uncertain significance
rs2134856824	11:118,959,418	G/T	—	pathogenic
rs1592213590	11:118,959,422	G/C	—	pathogenic
rs1946153303	11:118,959,428	T/C	—	likely benign
rs758197902	11:118,959,433	A/G	—	likely benign
rs746590771	11:118,959,437	G/C	—	likely benign
rs549893	11:118,959,732	T/C	—	benign
rs777286996	11:118,959,772	T/A	—	likely benign
rs779354960	11:118,959,782	C/G	—	uncertain significance
rs772336551	11:118,959,788	T/G	—	likely benign
rs1946167244	11:118,959,791	G/C	—	pathogenic
rs118204106	11:118,959,794	G/T	missense variant	pathogenic
rs2497430462	11:118,959,795	C/G	—	uncertain significance

Showing 100 of 462 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.