ADSS1

adenylosuccinate synthase 1

Summary

This gene encodes a member of the adenylosuccinate synthase family of proteins. The encoded muscle-specific enzyme plays a role in the purine nucleotide cycle by catalyzing the first step in the conversion of inosine monophosphate (IMP) to adenosine monophosphate (AMP). Mutations in this gene may cause adolescent onset distal myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

Known Variants347 total

rsidPosition (GRCh37)AllelesClassClinVar
rs254198363414:105,190,644G/A—uncertain significance
rs159519046414:105,190,660A/G—uncertain significance
rs254198379314:105,190,685G/A—likely benign
rs116796489814:105,190,708C/T—uncertain significance
rs131212505914:105,190,710G/A—uncertain significance
rs147052065014:105,190,736C/G—uncertain significance
rs37728557214:105,190,782A/G—uncertain significance
rs97409215614:105,196,227G/A—likely benign
rs8009717914:105,196,230A/G—uncertain significance
rs15055875314:105,196,232G/C—uncertain significance
rs146804246514:105,196,234T/G—uncertain significance
rs3467258814:105,196,235G/A—benign
rs254199556914:105,196,242A/G—uncertain significance
rs92955014014:105,196,251G/A—uncertain significance
rs146374228914:105,196,255C/T—uncertain significance
rs137223983414:105,196,266C/G—uncertain significance
rs147563571914:105,196,269G/A—uncertain significance
rs254199566714:105,196,272G/T—uncertain significance
rs141560157514:105,196,278C/T—pathogenic
rs36851132914:105,196,282G/A—uncertain significance
rs122743048714:105,196,293C/T—likely benign
rs189085792814:105,196,294T/G—uncertain significance
rs75248137814:105,196,296G/A—uncertain significance
rs254199582214:105,196,298C/A—likely benign
rs254199583514:105,196,300T/C—uncertain significance
rs189085888214:105,196,303C/G—uncertain significance
rs14660924514:105,196,320G/T—uncertain significance
rs14875785414:105,196,321C/T—uncertain significance
rs120473326914:105,196,336T/C—uncertain significance
rs144730588014:105,196,340C/T—likely benign
rs37392788914:105,196,362C/A—uncertain significance
rs254199610114:105,196,363A/C—uncertain significance
rs3395825214:105,196,365T/C—benign
rs76908671614:105,196,369T/A—uncertain significance
rs103164219814:105,196,376C/T—likely benign
rs55773797414:105,196,378A/G—uncertain significance
rs37643561814:105,196,382C/A—likely benign
rs254199626314:105,196,385G/A—likely benign
rs6173383914:105,196,391T/G—benign
rs75949368014:105,196,401C/A—uncertain significance
rs7336062514:105,196,402C/G—benign
rs75253266014:105,196,406C/T—likely benign
rs117138584314:105,196,412C/G—likely benign
rs75813313614:105,196,414G/T—uncertain significance
rs78150759114:105,196,418C/T—likely benign
rs14145020414:105,196,431A/C—uncertain significance
rs78025277614:105,196,432C/A—uncertain significance
rs140868671114:105,196,441C/T—uncertain significance
rs121135375414:105,196,442G/A—likely benign
rs101444458714:105,196,446G/C—uncertain significance
rs125055146914:105,196,452G/C—uncertain significance
rs55723247514:105,196,454G/A—likely benign
rs146326221814:105,196,455A/G—uncertain significance
rs77935900414:105,196,465G/T—uncertain significance
rs57375907814:105,196,469C/T—likely benign
rs89802741714:105,196,481T/C—likely benign
rs130982008414:105,196,491C/T—uncertain significance
rs129926725714:105,196,496C/T—likely benign
rs77244414714:105,196,519G/A—uncertain significance
rs104929468414:105,196,521G/A—uncertain significance
rs189087056614:105,196,524G/A—uncertain significance
rs137208217914:105,196,534C/A—uncertain significance
rs189087129614:105,196,537C/T—uncertain significance
rs214075496014:105,196,538T/A—likely benign
rs189087141914:105,196,541A/T—uncertain significance
rs98610874114:105,196,548C/T—uncertain significance
rs88799788114:105,196,549G/A—uncertain significance
rs145867107114:105,196,558C/A—likely benign
rs121133984514:105,196,560G/T—likely benign
rs90737523514:105,196,564C/T—likely benign
rs125198612014:105,196,565G/A—likely benign
rs123884654914:105,196,569A/C—likely benign
rs75144228614:105,201,339G/T—likely benign
rs118788973614:105,201,341C/T—likely benign
rs36790406514:105,201,342G/A—likely benign
rs89171819914:105,201,343G/A—likely benign
rs254201056414:105,201,344G/T—likely benign
rs128927154214:105,201,358G/A—uncertain significance
rs138577464714:105,201,365C/G—uncertain significance
rs77266084214:105,201,368C/T—likely benign
rs122955409914:105,201,369G/A—uncertain significance
rs76193581114:105,201,371C/T—likely benign
rs77808667314:105,201,372G/A—uncertain significance
rs77056598514:105,201,379C/T—uncertain significance
rs7408920714:105,201,380G/A—benign
rs20119908314:105,201,389G/C—likely benign
rs214077919314:105,201,395G/A—likely benign
rs214077922114:105,201,398A/G—likely benign
rs77545992814:105,201,405G/A—uncertain significance
rs136217716314:105,201,410C/A—uncertain significance
rs14907725914:105,201,412A/G—uncertain significance
rs76417873114:105,201,415T/C—uncertain significance
rs137200497714:105,201,417C/T—likely benign
rs76655946314:105,201,421C/T—uncertain significance
rs14312213114:105,201,425C/T—likely benign
rs254201134514:105,201,428C/T—likely benign
rs55497001614:105,201,447G/A—uncertain significance
rs78085024614:105,201,448T/C—uncertain significance
rs74553877614:105,201,452C/T—likely benign
rs148061434514:105,201,456A/G—uncertain significance

Showing 100 of 347 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.