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Variants search result for Homo sapiens
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51 records found for search term Pgs1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
401914867CV2808452single nucleotide variantNM_024419.5(PGS1):c.*11-44C>ADNAH17-related disorder [RCV003919138]|not provided [RCV003428506]likely benign177842401778424017Human1name
405276375CV3198510single nucleotide variantNM_024419.5(PGS1):c.*11-158G>APGS1-related disorder [RCV003903842]likely benign177842390378423903Humanname , trait , alternate_id
8585550CV120137single nucleotide variantNM_024419.4(PGS1):c.1402+3638C>TLung cancer [RCV000100657]uncertain significance177840772778407727Humanname
401772363CV2687501single nucleotide variantNM_024419.5(PGS1):c.4G>A (p.Ala2Thr)not specified [RCV004300736]uncertain significance177837866978378669Humanname
405748525CV3365009single nucleotide variantNM_024419.5(PGS1):c.14C>A (p.Ala5Glu)not specified [RCV004498785]uncertain significance177837867978378679Humanname
407529073CV3466983single nucleotide variantNM_024419.5(PGS1):c.26C>T (p.Ala9Val)not specified [RCV004655859]uncertain significance177837869178378691Humanname
156003776CV2396795single nucleotide variantNM_024419.5(PGS1):c.37T>C (p.Phe13Leu)not specified [RCV004233936]uncertain significance177837870278378702Humanname
597676129CV3572203single nucleotide variantNM_024419.5(PGS1):c.702T>C (p.Gly234=)not specified [RCV004836891]likely benign177840067778400677Humanname
401914864CV2808449single nucleotide variantNM_024419.5(PGS1):c.1395C>T (p.His465=)not provided [RCV003428505]likely benign177840408278404082Humanname
405748502CV3365005single nucleotide variantNM_024419.5(PGS1):c.109C>T (p.Arg37Cys)not specified [RCV004498781]uncertain significance177837877478378774Humanname
405748507CV3365006single nucleotide variantNM_024419.5(PGS1):c.140G>T (p.Arg47Met)not specified [RCV004498782]uncertain significance177837880578378805Humanname
598247863CV3999955single nucleotide variantNM_024419.5(PGS1):c.179C>T (p.Pro60Leu)not specified [RCV005384239]uncertain significance177839251178392511Humanname
156271113CV2195215single nucleotide variantNM_024419.5(PGS1):c.911A>G (p.Asn304Ser)not specified [RCV004080153]uncertain significance177840359878403598Humanname
155930552CV2224762single nucleotide variantNM_024419.5(PGS1):c.743G>A (p.Arg248His)not specified [RCV004092585]uncertain significance177840071878400718Humanname
155923690CV2347547single nucleotide variantNM_024419.5(PGS1):c.788C>T (p.Thr263Met)not specified [RCV004200487]uncertain significance177840076378400763Humanname
156087208CV2388104single nucleotide variantNM_024419.5(PGS1):c.512G>C (p.Gly171Ala)not specified [RCV004241225]uncertain significance177839934878399348Humanname
401759311CV2701484single nucleotide variantNM_024419.5(PGS1):c.590C>A (p.Thr197Lys)not specified [RCV004312151]uncertain significance177839942678399426Humanname
401783292CV2716251single nucleotide variantNM_024419.5(PGS1):c.371C>T (p.Ala124Val)not specified [RCV004323470]uncertain significance177839634578396345Humanname
401768453CV2716620single nucleotide variantNM_024419.5(PGS1):c.803C>T (p.Ala268Val)not specified [RCV004327687]uncertain significance177840077878400778Humanname
401770949CV2726312single nucleotide variantNM_024419.5(PGS1):c.593C>T (p.Pro198Leu)not specified [RCV004326754]uncertain significance177839942978399429Humanname
401895555CV2767484single nucleotide variantNM_024419.5(PGS1):c.497C>A (p.Thr166Lys)not specified [RCV004343648]uncertain significance177839833778398337Humanname
405748530CV3365010single nucleotide variantNM_024419.5(PGS1):c.418T>C (p.Cys140Arg)not specified [RCV004498786]uncertain significance177839825878398258Humanname
405748535CV3365011single nucleotide variantNM_024419.5(PGS1):c.551G>A (p.Arg184Gln)not specified [RCV004498787]likely benign177839938778399387Humanname
405748541CV3365012single nucleotide variantNM_024419.5(PGS1):c.614G>A (p.Arg205Gln)not specified [RCV004498788]uncertain significance177839945078399450Humanname
405748546CV3365013single nucleotide variantNM_024419.5(PGS1):c.886C>T (p.Arg296Trp)not specified [RCV004498789]uncertain significance177840357378403573Humanname
407530284CV3466984single nucleotide variantNM_024419.5(PGS1):c.902A>G (p.Lys301Arg)not specified [RCV004656975]uncertain significance177840358978403589Humanname
407530286CV3466985single nucleotide variantNM_024419.5(PGS1):c.991C>A (p.Leu331Ile)not specified [RCV004656976]uncertain significance177840367878403678Humanname
597766883CV3572205single nucleotide variantNM_024419.5(PGS1):c.328A>G (p.Met110Val)not specified [RCV004850356]uncertain significance177839266078392660Humanname
598247836CV3999951single nucleotide variantNM_024419.5(PGS1):c.526C>T (p.Arg176Cys)not specified [RCV005384235]uncertain significance177839936278399362Humanname
598247842CV3999952single nucleotide variantNM_024419.5(PGS1):c.590C>T (p.Thr197Met)not specified [RCV005384236]uncertain significance177839942678399426Humanname
598247871CV3999956single nucleotide variantNM_024419.5(PGS1):c.527G>T (p.Arg176Leu)not specified [RCV005384240]uncertain significance177839936378399363Humanname
155965016CV2206304single nucleotide variantNM_024419.5(PGS1):c.1220A>G (p.Gln407Arg)not specified [RCV004078646]uncertain significance177840390778403907Humanname
156230360CV2235045single nucleotide variantNM_024419.5(PGS1):c.1595C>T (p.Ala532Val)not specified [RCV004113228]uncertain significance177841958978419589Humanname
155912485CV2245560single nucleotide variantNM_024419.5(PGS1):c.1279G>T (p.Ala427Ser)not specified [RCV004109643]uncertain significance177840396678403966Humanname
155956480CV2304040single nucleotide variantNM_024419.5(PGS1):c.1388C>T (p.Thr463Met)not specified [RCV004170090]uncertain significance177840407578404075Humanname
156395909CV2325992single nucleotide variantNM_024419.5(PGS1):c.1186A>G (p.Met396Val)not specified [RCV004176204]uncertain significance177840387378403873Humanname
156063553CV2389388single nucleotide variantNM_024419.5(PGS1):c.1610C>T (p.Pro537Leu)not specified [RCV004238124]uncertain significance177841960478419604Humanname
401721406CV2709948single nucleotide variantNM_024419.5(PGS1):c.1372T>C (p.Trp458Arg)not specified [RCV004315019]uncertain significance177840405978404059Humanname
401890216CV2763706single nucleotide variantNM_024419.5(PGS1):c.1106C>T (p.Thr369Ile)not specified [RCV004343203]uncertain significance177840379378403793Humanname
405748485CV3365002single nucleotide variantNM_024419.5(PGS1):c.1004A>G (p.Glu335Gly)not specified [RCV004498778]uncertain significance177840369178403691Humanname
405748491CV3365003single nucleotide variantNM_024419.5(PGS1):c.1010C>G (p.Ala337Gly)not specified [RCV004498779]uncertain significance177840369778403697Humanname
405748497CV3365004single nucleotide variantNM_024419.5(PGS1):c.1037C>A (p.Ala346Asp)not specified [RCV004498780]uncertain significance177840372478403724Humanname
405748514CV3365007single nucleotide variantNM_024419.5(PGS1):c.1432C>G (p.Leu478Val)not specified [RCV004498783]uncertain significance177841490878414908Humanname
405748519CV3365008single nucleotide variantNM_024419.5(PGS1):c.1485C>G (p.His495Gln)not specified [RCV004498784]uncertain significance177841496178414961Humanname
407464416CV3466982single nucleotide variantNM_024419.5(PGS1):c.1351C>T (p.Arg451Trp)not specified [RCV004659947]uncertain significance177840403878404038Humanname
407530288CV3466986single nucleotide variantNM_024419.5(PGS1):c.1298T>G (p.Val433Gly)not specified [RCV004656977]uncertain significance177840398578403985Humanname
597676139CV3572204single nucleotide variantNM_024419.5(PGS1):c.1078T>G (p.Phe360Val)not specified [RCV004836892]uncertain significance177840376578403765Humanname
597766888CV3572206single nucleotide variantNM_024419.5(PGS1):c.1276G>A (p.Gly426Ser)not specified [RCV004850357]uncertain significance177840396378403963Humanname
598247849CV3999953single nucleotide variantNM_024419.5(PGS1):c.1132C>T (p.Arg378Cys)not specified [RCV005384237]uncertain significance177840381978403819Humanname
598247856CV3999954single nucleotide variantNM_024419.5(PGS1):c.1546C>T (p.His516Tyr)not specified [RCV005384238]uncertain significance177841502278415022Humanname
14696163CV612415single nucleotide variantNM_024419.5(PGS1):c.1513G>A (p.Val505Met)High myopia [RCV000785710]|not specified [RCV004027184]uncertain significance177841498978414989Human2name