AMPD3

adenosine monophosphate deaminase 3

Summary

This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoforms, whereas other family members encode isoforms that predominate in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008]

Known Variants155 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs7112321	11:10,471,218	C/T	upstream gene variant	—
rs11042812	11:10,474,010	G/T	—	—
rs7949917	11:10,475,370	G/C	—	—
rs4909931	11:10,475,772	G/A	—	—
rs899013	11:10,476,689	A/G	—	benign
rs2071019	11:10,476,698	C/T	—	benign
rs1336172653	11:10,476,738	T/C	—	uncertain significance
rs886047584	11:10,476,761	A/G	—	uncertain significance
rs899012	11:10,476,762	G/C	—	benign
rs180772894	11:10,476,801	G/A	—	uncertain significance
rs764413936	11:10,476,844	T/C	—	uncertain significance
rs891567072	11:10,476,885	A/C	—	uncertain significance
rs899011	11:10,476,898	T/C	—	benign
rs28403593	11:10,476,913	G/T	—	benign
rs58115104	11:10,476,919	T/G	—	benign
rs576679601	11:10,476,976	C/T	—	uncertain significance
rs779381507	11:10,476,992	G/A	—	uncertain significance
rs139421685	11:10,477,939	G/T	—	likely benign
rs540683532	11:10,483,056	T/G	—	uncertain significance
rs145604316	11:10,483,071	C/T	—	uncertain significance
rs148904594	11:10,483,073	C/T	—	uncertain significance
rs1848271993	11:10,483,122	T/C	—	uncertain significance
rs142453229	11:10,483,129	G/A	—	likely benign
rs933731212	11:10,483,147	A/C	—	uncertain significance
rs373716662	11:10,483,155	G/A	—	uncertain significance
rs375814372	11:10,483,176	C/T	—	uncertain significance
rs200620189	11:10,483,275	A/G	—	uncertain significance
rs762457397	11:10,483,280	G/A	—	uncertain significance
rs10840421	11:10,491,357	C/G	—	—
rs12786914	11:10,492,320	C/G	intron variant	—
rs73409951	11:10,500,056	T/C	—	benign
rs201551496	11:10,500,122	C/T	—	uncertain significance
rs149433198	11:10,500,134	G/A	—	uncertain significance
rs774974291	11:10,500,176	A/G	—	uncertain significance
rs758624728	11:10,500,204	C/T	—	uncertain significance
rs780348844	11:10,500,213	C/T	—	uncertain significance
rs748652391	11:10,500,246	G/A	—	uncertain significance
rs542609298	11:10,500,259	C/T	—	uncertain significance
rs117002871	11:10,500,274	C/T	—	uncertain significance
rs150321693	11:10,500,285	G/A	—	conflicting classifications of pathogenicity
rs374707086	11:10,503,597	C/T	—	uncertain significance
rs1236768355	11:10,503,611	T/A	—	uncertain significance
rs752821070	11:10,503,642	G/A	—	uncertain significance
rs756660564	11:10,503,643	A/G	—	uncertain significance
rs201639499	11:10,503,667	C/T	—	uncertain significance
rs886047586	11:10,503,668	G/A	—	uncertain significance
rs147701905	11:10,503,681	G/A	—	uncertain significance
rs764108261	11:10,503,683	G/T	—	uncertain significance
rs754636700	11:10,503,698	G/A	—	uncertain significance
rs11042836	11:10,503,736	C/T	—	likely benign
rs202051288	11:10,503,740	C/T	—	uncertain significance
rs16907852	11:10,503,756	G/A	—	benign
rs11042843	11:10,506,297	C/T	intron variant	—
rs779879761	11:10,506,374	C/T	—	likely benign
rs200373616	11:10,506,377	T/G	—	uncertain significance
rs34319136	11:10,506,446	C/T	—	likely benign
rs987924771	11:10,506,479	C/T	—	uncertain significance
rs761582303	11:10,506,543	G/A	—	uncertain significance
rs1313616295	11:10,508,788	C/T	—	likely benign
rs144613367	11:10,508,808	A/G	—	uncertain significance
rs138427529	11:10,508,848	C/T	—	likely benign
rs149271802	11:10,508,857	C/T	—	uncertain significance
rs117706710	11:10,508,903	T/G	—	conflicting classifications of pathogenicity
rs776606981	11:10,508,924	C/T	—	uncertain significance
rs75283041	11:10,514,916	G/A	—	likely benign
rs147246880	11:10,514,930	A/G	—	uncertain significance
rs555477655	11:10,514,937	G/T	—	uncertain significance
rs758038726	11:10,514,947	C/T	—	uncertain significance
rs201115705	11:10,514,972	C/T	—	uncertain significance
rs149809940	11:10,515,022	C/T	—	uncertain significance
rs61388455	11:10,515,023	G/A	—	benign
rs139511483	11:10,515,036	C/T	—	uncertain significance
rs75286033	11:10,515,037	G/A	—	likely benign
rs886047587	11:10,515,043	C/T	—	uncertain significance
rs979808372	11:10,515,046	A/G	—	uncertain significance
rs76407515	11:10,515,087	C/T	—	likely benign
rs180912663	11:10,516,440	C/G	—	uncertain significance
rs202231572	11:10,516,441	C/A	—	uncertain significance
rs184691110	11:10,516,569	A/G	—	uncertain significance
rs1478851358	11:10,516,571	G/C	—	uncertain significance
rs376493129	11:10,517,104	C/A	—	uncertain significance
rs369778695	11:10,517,114	C/T	—	uncertain significance
rs143114453	11:10,517,126	C/T	—	uncertain significance
rs376077336	11:10,517,152	G/A	—	likely benign
rs201772411	11:10,517,154	A/G	—	uncertain significance
rs370322247	11:10,517,167	G/T	—	uncertain significance
rs775506721	11:10,517,186	A/C	—	uncertain significance
rs36003153	11:10,517,213	T/C	—	likely benign
rs924858555	11:10,517,216	T/G	—	uncertain significance
rs199742272	11:10,517,233	G/T	—	uncertain significance
rs766302802	11:10,517,238	A/T	—	uncertain significance
rs2539548114	11:10,517,271	C/T	—	uncertain significance
rs777416663	11:10,518,352	C/A	—	likely benign
rs751925691	11:10,518,356	C/T	—	likely benign
rs144107914	11:10,518,373	C/T	—	uncertain significance
rs371018918	11:10,518,380	G/A	—	uncertain significance
rs1446342474	11:10,518,424	C/T	—	uncertain significance
rs78473994	11:10,518,431	C/T	—	benign
rs749010948	11:10,518,438	A/C	—	uncertain significance
rs141457480	11:10,518,441	A/G	—	uncertain significance

Showing 100 of 155 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.