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Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


67 records found for search term Got1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15181540CV730720single nucleotide variantNM_002079.3(GOT1):c.643-5C>Tnot provided [RCV000885789]benign|likely benign109940387999403879Humanname
155983024CV2273033single nucleotide variantNM_002079.3(GOT1):c.44C>T (p.Pro15Leu)not specified [RCV004137686]uncertain significance109943052299430522Humanname
156187743CV2318933single nucleotide variantNM_002079.3(GOT1):c.38C>T (p.Ala13Val)not specified [RCV004175824]uncertain significance109943052899430528Humanname
405293435CV3207444single nucleotide variantNM_002079.3(GOT1):c.570C>T (p.His190=)GOT1-related disorder [RCV003931819]likely benign109940582899405828Humanname , trait , alternate_id
405287933CV3217999single nucleotide variantNM_002079.3(GOT1):c.363G>A (p.Ala121=)GOT1-related disorder [RCV003982123]benign109940678799406787Humanname , trait , alternate_id
597732495CV3688217single nucleotide variantNM_002079.3(GOT1):c.46G>A (p.Val16Ile)not specified [RCV004920026]uncertain significance109943052099430520Humanname
156227929CV2234851single nucleotide variantNM_002079.3(GOT1):c.257G>A (p.Arg86His)not specified [RCV004113071]uncertain significance109942066799420667Humanname
156245335CV2310335single nucleotide variantNM_002079.3(GOT1):c.172G>C (p.Glu58Gln)not specified [RCV004163383]uncertain significance109942075299420752Humanname
156333472CV2335997single nucleotide variantNM_002079.3(GOT1):c.198C>G (p.Ser66Arg)not specified [RCV004189603]uncertain significance109942072699420726Humanname
329356585CV2430822single nucleotide variantNM_002079.3(GOT1):c.256C>T (p.Arg86Cys)not specified [RCV004253996]uncertain significance109942066899420668Humanname
405786980CV3258566single nucleotide variantNM_002079.3(GOT1):c.214C>A (p.Leu72Met)not specified [RCV004387879]uncertain significance109942071099420710Humanname
597789126CV3688216single nucleotide variantNM_002079.3(GOT1):c.180G>T (p.Lys60Asn)not specified [RCV004932892]uncertain significance109942074499420744Humanname
156040423CV2332813single nucleotide variantNM_002079.3(GOT1):c.364C>T (p.Arg122Cys)not specified [RCV004189478]uncertain significance109940678699406786Humanname
156190096CV2339503single nucleotide variantNM_002079.3(GOT1):c.874G>A (p.Val292Met)not specified [RCV004194169]uncertain significance109940355499403554Humanname
405266018CV3215804single nucleotide variantNM_002079.3(GOT1):c.479G>A (p.Arg160His)GOT1-related disorder [RCV003946952]likely benign109940619599406195Human5name , trait , alternate_id
405786985CV3258567single nucleotide variantNM_002079.3(GOT1):c.597T>G (p.Ile199Met)not specified [RCV004387880]uncertain significance109940580199405801Humanname
405786990CV3258568single nucleotide variantNM_002079.3(GOT1):c.647G>A (p.Arg216Gln)not specified [RCV004387881]uncertain significance109940387099403870Humanname
405786994CV3258569single nucleotide variantNM_002079.3(GOT1):c.769T>G (p.Phe257Val)not specified [RCV004387882]uncertain significance109940374899403748Humanname
405787125CV3258570single nucleotide variantNM_002079.3(GOT1):c.914G>A (p.Arg305Gln)not specified [RCV004387883]uncertain significance109940351499403514Humanname
405787128CV3258571single nucleotide variantNM_002079.3(GOT1):c.945G>C (p.Glu315Asp)not specified [RCV004387884]uncertain significance109940348399403483Humanname
407520524CV3439845single nucleotide variantNM_002079.3(GOT1):c.365G>A (p.Arg122His)not specified [RCV004630078]uncertain significance109940678599406785Humanname
407520527CV3439846single nucleotide variantNM_002079.3(GOT1):c.829G>C (p.Glu277Gln)not specified [RCV004630079]uncertain significance109940359999403599Humanname
597732509CV3688218single nucleotide variantNM_002079.3(GOT1):c.631T>G (p.Ser211Ala)not specified [RCV004920027]uncertain significance109940576799405767Humanname
597789134CV3688220single nucleotide variantNM_002079.3(GOT1):c.832C>T (p.Pro278Ser)not specified [RCV004932894]uncertain significance109940359699403596Humanname
598265086CV3974638single nucleotide variantNM_002079.3(GOT1):c.397C>T (p.Pro133Ser)not specified [RCV005348981]uncertain significance109940675399406753Humanname
15155639CV724149single nucleotide variantNM_002079.3(GOT1):c.548A>G (p.Glu183Gly)not provided [RCV000880459]benign109940585099405850Humanname
155970228CV2241322single nucleotide variantNM_002079.3(GOT1):c.1225G>C (p.Val409Leu)not specified [RCV004102462]uncertain significance109939756499397564Humanname
156264145CV2364247single nucleotide variantNM_002079.3(GOT1):c.1036A>G (p.Lys346Glu)not specified [RCV004223479]uncertain significance109940264699402646Humanname
401868753CV2782171single nucleotide variantNM_002079.3(GOT1):c.1057C>T (p.His353Tyr)not specified [RCV004359149]uncertain significance109940262599402625Humanname
597789130CV3688219single nucleotide variantNM_002079.3(GOT1):c.1000A>G (p.Met334Val)not specified [RCV004932893]uncertain significance109940268299402682Humanname
598233169CV3974639single nucleotide variantNM_002079.3(GOT1):c.1213A>T (p.Ile405Phe)not specified [RCV005342716]uncertain significance109939757699397576Humanname
8567877CV38679deletionNM_002079.3(GOT1):c.1165_1167del (p.Asn389del)ASPARTATE AMINOTRANSFERASE, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 [RCV000022576]pathogenic109939762299397624Humanname
401925803CV2821025single nucleotide variantNM_152413.3(GOT1L1):c.81T>C (p.Asp27=)not provided [RCV003436863]likely benign83793994937939949Humanname
155922742CV2219114single nucleotide variantNM_152413.3(GOT1L1):c.23T>C (p.Met8Thr)not specified [RCV004087272]uncertain significance83794000737940007Humanname
156041236CV2342122single nucleotide variantNM_152413.3(GOT1L1):c.89C>T (p.Pro30Leu)not specified [RCV004191715]uncertain significance83793994137939941Humanname
598233177CV3974640single nucleotide variantNM_152413.3(GOT1L1):c.37G>A (p.Ala13Thr)not specified [RCV005342717]uncertain significance83793999337939993Humanname
155978344CV2247040single nucleotide variantNM_152413.3(GOT1L1):c.154G>A (p.Val52Met)not specified [RCV004114596]uncertain significance83793884337938843Humanname
156184935CV2294910single nucleotide variantNM_152413.3(GOT1L1):c.269A>G (p.Lys90Arg)not specified [RCV004156060]uncertain significance83793872837938728Humanname
156203488CV2313313single nucleotide variantNM_152413.3(GOT1L1):c.121A>G (p.Met41Val)not specified [RCV004161554]uncertain significance83793887637938876Humanname
401758578CV2694172single nucleotide variantNM_152413.3(GOT1L1):c.110A>G (p.Tyr37Cys)not specified [RCV004302598]uncertain significance83793992037939920Humanname
401763395CV2703809single nucleotide variantNM_152413.3(GOT1L1):c.107C>A (p.Ala36Asp)not specified [RCV004306678]uncertain significance83793992337939923Humanname
401866161CV2762549single nucleotide variantNM_152413.3(GOT1L1):c.244G>A (p.Ala82Thr)not specified [RCV004338082]uncertain significance83793875337938753Humanname
407520537CV3439850single nucleotide variantNM_152413.3(GOT1L1):c.169C>G (p.Arg57Gly)not specified [RCV004630083]uncertain significance83793882837938828Humanname
407520540CV3439851single nucleotide variantNM_152413.3(GOT1L1):c.107C>T (p.Ala36Val)not specified [RCV004630084]uncertain significance83793992337939923Humanname
597732518CV3688222single nucleotide variantNM_152413.3(GOT1L1):c.137A>G (p.His46Arg)not specified [RCV004920028]uncertain significance83793886037938860Humanname
597732540CV3688224single nucleotide variantNM_152413.3(GOT1L1):c.104T>C (p.Leu35Ser)not specified [RCV004920030]uncertain significance83793992637939926Humanname
156374638CV2194692single nucleotide variantNM_152413.3(GOT1L1):c.884G>A (p.Arg295His)not specified [RCV004075251]uncertain significance83793574937935749Humanname
156264696CV2198596single nucleotide variantNM_152413.3(GOT1L1):c.551G>C (p.Gly184Ala)not specified [RCV004075614]uncertain significance83793702637937026Humanname
155918578CV2205961single nucleotide variantNM_152413.3(GOT1L1):c.379C>T (p.Arg127Cys)not specified [RCV004078388]uncertain significance83793766837937668Humanname
155901002CV2241888single nucleotide variantNM_152413.3(GOT1L1):c.869C>A (p.Pro290His)not specified [RCV004106805]uncertain significance83793576437935764Humanname
156283045CV2334637single nucleotide variantNM_152413.3(GOT1L1):c.424G>A (p.Val142Ile)not specified [RCV004188622]likely benign83793737237937372Humanname
401729442CV2733056single nucleotide variantNM_152413.3(GOT1L1):c.428T>G (p.Phe143Cys)not specified [RCV004331225]uncertain significance83793736837937368Humanname
401866491CV2775566single nucleotide variantNM_152413.3(GOT1L1):c.707C>T (p.Ser236Phe)not specified [RCV004350734]uncertain significance83793677637936776Humanname
405787148CV3258575single nucleotide variantNM_152413.3(GOT1L1):c.328G>A (p.Gly110Ser)not specified [RCV004387888]uncertain significance83793771937937719Humanname
405787153CV3258576single nucleotide variantNM_152413.3(GOT1L1):c.562G>C (p.Asp188His)not specified [RCV004387889]uncertain significance83793701537937015Humanname
407520531CV3439848single nucleotide variantNM_152413.3(GOT1L1):c.642T>G (p.Ile214Met)not specified [RCV004630081]uncertain significance83793684137936841Humanname
597789138CV3688221single nucleotide variantNM_152413.3(GOT1L1):c.689T>A (p.Ile230Asn)not specified [RCV004932895]uncertain significance83793679437936794Humanname
597732529CV3688223single nucleotide variantNM_152413.3(GOT1L1):c.849G>C (p.Gln283His)not specified [RCV004920029]uncertain significance83793578437935784Humanname
598265091CV3974641single nucleotide variantNM_152413.3(GOT1L1):c.332C>T (p.Ala111Val)not specified [RCV005348982]uncertain significance83793771537937715Humanname
156248770CV2203219single nucleotide variantNM_152413.3(GOT1L1):c.1187A>G (p.Asn396Ser)not specified [RCV004070910]uncertain significance83793437237934372Humanname
401761023CV2695249single nucleotide variantNM_152413.3(GOT1L1):c.1145G>A (p.Cys382Tyr)not specified [RCV004303381]uncertain significance83793441437934414Humanname
401859843CV2768364single nucleotide variantNM_152413.3(GOT1L1):c.1001T>C (p.Leu334Pro)not specified [RCV004350621]uncertain significance83793514437935144Humanname
405787133CV3258572single nucleotide variantNM_152413.3(GOT1L1):c.1036G>A (p.Glu346Lys)not specified [RCV004387885]uncertain significance83793510937935109Humanname
405787137CV3258573single nucleotide variantNM_152413.3(GOT1L1):c.1093G>A (p.Val365Ile)not specified [RCV004387886]uncertain significance83793446637934466Humanname
405787142CV3258574single nucleotide variantNM_152413.3(GOT1L1):c.1190A>G (p.Glu397Gly)not specified [RCV004387887]uncertain significance83793436937934369Humanname
407520534CV3439849single nucleotide variantNM_152413.3(GOT1L1):c.1171A>G (p.Ile391Val)not specified [RCV004630082]uncertain significance83793438837934388Humanname
598233184CV3974642single nucleotide variantNM_152413.3(GOT1L1):c.1142G>C (p.Ser381Thr)not specified [RCV005342718]likely benign83793441737934417Humanname