Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


65 records found for search term Slc7a5
Refine Term:
Assembly:
    Chr  
Sort By:
           Export CSV TAB Print

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405293131CV3207224single nucleotide variantNM_003486.7(SLC7A5):c.*9C>GSLC7A5-related disorder [RCV003931623]likely benign168783296187832961Humanname , trait , alternate_id
405266295CV3211803single nucleotide variantNM_003486.7(SLC7A5):c.-1C>TSLC7A5-related disorder [RCV003947092]likely benign168786942387869423Humanname , trait , alternate_id
405272192CV3203093single nucleotide variantNM_003486.7(SLC7A5):c.1290+6C>ASLC7A5-related disorder [RCV003914140]likely benign168783649287836492Humanname , trait , alternate_id
405278010CV3205269single nucleotide variantNM_003486.7(SLC7A5):c.1141-4C>ASLC7A5-related disorder [RCV003954310]likely benign168783665187836651Humanname , trait , alternate_id
15118794CV779787single nucleotide variantNM_003486.7(SLC7A5):c.1043+6C>Tnot provided [RCV000962439]benign168783870887838708Humanname
598260212CV3922039single nucleotide variantNM_003486.7(SLC7A5):c.5C>T (p.Ala2Val)not specified [RCV005279739]uncertain significance168786941887869418Humanname
401911920CV2817907single nucleotide variantNM_003486.7(SLC7A5):c.132G>C (p.Val44=)not provided [RCV003426886]likely benign168786929187869291Humanname
405256016CV3208565single nucleotide variantNM_003486.7(SLC7A5):c.17C>T (p.Pro6Leu)SLC7A5-related disorder [RCV003939642]benign168786940687869406Humanname , trait , alternate_id
598260192CV3922034single nucleotide variantNM_003486.7(SLC7A5):c.23G>T (p.Arg8Leu)not specified [RCV005279735]uncertain significance168786940087869400Humanname
598237629CV3922035single nucleotide variantNM_003486.7(SLC7A5):c.17C>G (p.Pro6Arg)not specified [RCV005275692]uncertain significance168786940687869406Humanname
156237698CV2265238single nucleotide variantNM_003486.7(SLC7A5):c.76A>T (p.Met26Leu)not specified [RCV004126348]uncertain significance168786934787869347Humanname
401730468CV2711332single nucleotide variantNM_003486.7(SLC7A5):c.46G>A (p.Ala16Thr)not specified [RCV004313102]uncertain significance168786937787869377Humanname
401723545CV2724941single nucleotide variantNM_003486.7(SLC7A5):c.31C>G (p.Leu11Val)not specified [RCV004319705]uncertain significance168786939287869392Humanname
401873297CV2776472single nucleotide variantNM_003486.7(SLC7A5):c.68G>C (p.Arg23Pro)not specified [RCV004355580]uncertain significance168786935587869355Humanname
405284551CV3196865single nucleotide variantNM_003486.7(SLC7A5):c.552C>G (p.Ala184=)SLC7A5-related disorder [RCV003979729]likely benign168785183687851836Humanname , trait , alternate_id
405276193CV3199632single nucleotide variantNM_003486.7(SLC7A5):c.459C>T (p.Ala153=)SLC7A5-related disorder [RCV003917020]likely benign168786896487868964Humanname , trait , alternate_id
405284774CV3201828single nucleotide variantNM_003486.7(SLC7A5):c.990C>T (p.Phe330=)SLC7A5-related disorder [RCV003909350]likely benign168783876787838767Humanname , trait , alternate_id
405283121CV3216942single nucleotide variantNM_003486.7(SLC7A5):c.345C>A (p.Gly115=)SLC7A5-related disorder [RCV003979102]benign168786907887869078Humanname , trait , alternate_id
405770689CV3322294single nucleotide variantNM_003486.7(SLC7A5):c.94G>T (p.Ala32Ser)not specified [RCV004456925]uncertain significance168786932987869329Humanname
15168235CV740436single nucleotide variantNM_003486.7(SLC7A5):c.597C>T (p.Ala199=)SLC7A5-related disorder [RCV003910809]|not provided [RCV000904811]benign168785179187851791Humanname , trait , alternate_id
15174695CV740437single nucleotide variantNM_003486.7(SLC7A5):c.387C>T (p.Ala129=)SLC7A5-related disorder [RCV003950658]|not provided [RCV000906029]benign168786903687869036Humanname , trait , alternate_id
401766530CV2676201single nucleotide variantNM_003486.7(SLC7A5):c.151A>G (p.Thr51Ala)not specified [RCV004286248]uncertain significance168786927287869272Humanname
405280588CV3195578single nucleotide variantNM_003486.7(SLC7A5):c.122G>A (p.Gly41Asp)SLC7A5-related disorder [RCV003906822]likely benign168786930187869301Humanname , trait , alternate_id
405295139CV3211082single nucleotide variantNM_003486.7(SLC7A5):c.1347C>G (p.Val449=)SLC7A5-related disorder [RCV003937079]benign168783453587834535Humanname , trait , alternate_id
597776693CV3606752single nucleotide variantNM_003486.7(SLC7A5):c.104C>T (p.Ser35Leu)not specified [RCV004872862]uncertain significance168786931987869319Humanname
598260197CV3922036single nucleotide variantNM_003486.7(SLC7A5):c.167T>G (p.Val56Gly)not specified [RCV005279736]uncertain significance168786925687869256Humanname
598260202CV3922037single nucleotide variantNM_003486.7(SLC7A5):c.231G>C (p.Lys77Asn)not specified [RCV005279737]uncertain significance168786919287869192Humanname
15154399CV715157single nucleotide variantNM_003486.7(SLC7A5):c.1131C>T (p.Leu377=)SLC7A5-related disorder [RCV003916262]|not provided [RCV000968730]benign168783785487837854Humanname , trait , alternate_id
15112768CV715158single nucleotide variantNM_003486.7(SLC7A5):c.1008C>T (p.Phe336=)not provided [RCV000961363]benign168783874987838749Humanname
151732555CV1336382single nucleotide variantNM_003486.7(SLC7A5):c.737C>T (p.Ala246Val)Autism spectrum disorder [RCV001849610]uncertain significance168784108387841083Human2name
156398751CV2194766single nucleotide variantNM_003486.7(SLC7A5):c.964G>A (p.Val322Ile)not specified [RCV004075314]uncertain significance168783879387838793Humanname
329356163CV2442485single nucleotide variantNM_003486.7(SLC7A5):c.612G>T (p.Lys204Asn)not specified [RCV004266726]uncertain significance168785177687851776Humanname
401737676CV2699880single nucleotide variantNM_003486.7(SLC7A5):c.920C>T (p.Ser307Leu)not specified [RCV004308518]uncertain significance168783972187839721Humanname
401935747CV2817906single nucleotide variantNM_003486.7(SLC7A5):c.607G>A (p.Ala203Thr)not provided [RCV003413023]likely benign168785178187851781Humanname
405770650CV3322287single nucleotide variantNM_003486.7(SLC7A5):c.343G>A (p.Gly115Ser)not specified [RCV004456918]uncertain significance168786908087869080Humanname
405770657CV3322288single nucleotide variantNM_003486.7(SLC7A5):c.422G>A (p.Arg141Gln)not specified [RCV004456919]uncertain significance168786900187869001Humanname
405770662CV3322289single nucleotide variantNM_003486.7(SLC7A5):c.494C>T (p.Pro165Leu)not specified [RCV004456920]uncertain significance168786892987868929Humanname
405770668CV3322290single nucleotide variantNM_003486.7(SLC7A5):c.527G>T (p.Cys176Phe)not specified [RCV004456921]uncertain significance168786889687868896Humanname
405770678CV3322292single nucleotide variantNM_003486.7(SLC7A5):c.806A>G (p.Asn269Ser)not specified [RCV004456923]uncertain significance168784043887840438Humanname
405770682CV3322293single nucleotide variantNM_003486.7(SLC7A5):c.937G>A (p.Val313Met)not specified [RCV004456924]uncertain significance168783970487839704Humanname
407515706CV3481111single nucleotide variantNM_003486.7(SLC7A5):c.584G>A (p.Arg195Gln)not specified [RCV004675023]uncertain significance168785180487851804Humanname
407515711CV3481113single nucleotide variantNM_003486.7(SLC7A5):c.577G>A (p.Ala193Thr)not specified [RCV004675025]uncertain significance168785181187851811Humanname
597725091CV3606753single nucleotide variantNM_003486.7(SLC7A5):c.865T>C (p.Tyr289His)not specified [RCV004862389]uncertain significance168783977687839776Humanname
597725099CV3606754single nucleotide variantNM_003486.7(SLC7A5):c.931G>A (p.Val311Met)not specified [RCV004862390]uncertain significance168783971087839710Humanname
597725117CV3606758single nucleotide variantNM_003486.7(SLC7A5):c.391C>T (p.Leu131Phe)not specified [RCV004862392]uncertain significance168786903287869032Humanname
598260207CV3922038single nucleotide variantNM_003486.7(SLC7A5):c.314A>G (p.Glu105Gly)not specified [RCV005279738]uncertain significance168786910987869109Humanname
15200931CV703876single nucleotide variantNM_003486.7(SLC7A5):c.668A>T (p.Asp223Val)SLC7A5-related disorder [RCV003935882]|not provided [RCV000957475]benign168784115287841152Humanname , trait , alternate_id
15112777CV715159single nucleotide variantNM_003486.7(SLC7A5):c.690C>G (p.Asn230Lys)not provided [RCV000961364]benign168784113087841130Humanname
151732590CV1336389single nucleotide variantNM_003486.7(SLC7A5):c.1124C>T (p.Pro375Leu)Autism spectrum disorder [RCV001849617]uncertain significance168783786187837861Human2name
156380351CV2208123single nucleotide variantNM_003486.7(SLC7A5):c.1303C>G (p.Leu435Val)not specified [RCV004086803]uncertain significance168783457987834579Humanname
156030002CV2238368single nucleotide variantNM_003486.7(SLC7A5):c.1240G>A (p.Gly414Ser)not specified [RCV004113438]uncertain significance168783654887836548Humanname
156182065CV2338173single nucleotide variantNM_003486.7(SLC7A5):c.1460A>G (p.Gln487Arg)not specified [RCV004184200]uncertain significance168783442287834422Humanname
156012800CV2358962single nucleotide variantNM_003486.7(SLC7A5):c.1266G>T (p.Lys422Asn)not specified [RCV004212292]uncertain significance168783652287836522Humanname
155908746CV2387431single nucleotide variantNM_003486.7(SLC7A5):c.1426G>T (p.Val476Phe)not specified [RCV004240296]uncertain significance168783445687834456Humanname
329360566CV2439505single nucleotide variantNM_003486.7(SLC7A5):c.1342G>A (p.Ala448Thr)not specified [RCV004262444]uncertain significance168783454087834540Humanname
401731016CV2674232single nucleotide variantNM_003486.7(SLC7A5):c.1144G>C (p.Val382Leu)not specified [RCV004289122]uncertain significance168783664487836644Humanname
401883449CV2785663single nucleotide variantNM_003486.7(SLC7A5):c.1300G>A (p.Ala434Thr)not specified [RCV004364932]uncertain significance168783458287834582Humanname
401865774CV2786123single nucleotide variantNM_003486.7(SLC7A5):c.1510C>A (p.Pro504Thr)not specified [RCV004359930]uncertain significance168783298487832984Humanname
405770627CV3322283single nucleotide variantNM_003486.7(SLC7A5):c.1463G>T (p.Gly488Val)not specified [RCV004456914]uncertain significance168783441987834419Humanname
405770632CV3322284single nucleotide variantNM_003486.7(SLC7A5):c.1465A>G (p.Ile489Val)not specified [RCV004456915]uncertain significance168783441787834417Humanname
405770638CV3322285single nucleotide variantNM_003486.7(SLC7A5):c.1499T>A (p.Met500Lys)not specified [RCV004456916]uncertain significance168783299587832995Humanname
407515709CV3481112single nucleotide variantNM_003486.7(SLC7A5):c.1132G>A (p.Val378Met)not specified [RCV004675024]uncertain significance168783785387837853Humanname
597776689CV3606751single nucleotide variantNM_003486.7(SLC7A5):c.1108C>G (p.Leu370Val)not specified [RCV004872861]uncertain significance168783787787837877Humanname
597776701CV3606757single nucleotide variantNM_003486.7(SLC7A5):c.1440C>G (p.Asn480Lys)not specified [RCV004872864]uncertain significance168783444287834442Humanname
597776705CV3606759single nucleotide variantNM_003486.7(SLC7A5):c.1315T>G (p.Phe439Val)not specified [RCV004872865]uncertain significance168783456787834567Humanname