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Variants search result for Homo sapiens
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52 records found for search term Oxt
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15167582CV778398single nucleotide variantNM_000915.4(OXT):c.323-5T>Cnot provided [RCV000949086]benign2030723583072358Humanname
405738976CV3371195single nucleotide variantNM_000915.4(OXT):c.26G>T (p.Cys9Phe)not specified [RCV004497444]uncertain significance2030716813071681Humanname
597692754CV3578084single nucleotide variantNM_000915.4(OXT):c.14G>A (p.Ser5Asn)not specified [RCV004838843]uncertain significance2030716693071669Humanname
155977221CV2218700single nucleotide variantNM_000915.4(OXT):c.143G>A (p.Gly48Asp)not specified [RCV004084633]uncertain significance2030720993072099Humanname
156146468CV2265132single nucleotide variantNM_000915.4(OXT):c.290G>A (p.Arg97His)not specified [RCV004126264]uncertain significance2030722463072246Humanname
156209228CV2304442single nucleotide variantNM_000915.4(OXT):c.323A>G (p.Asp108Gly)not specified [RCV004164538]uncertain significance2030723633072363Humanname
405738983CV3371196single nucleotide variantNM_000915.4(OXT):c.324C>G (p.Asp108Glu)not specified [RCV004497445]uncertain significance2030723643072364Humanname
407517281CV3469948single nucleotide variantNM_000915.4(OXT):c.305G>A (p.Gly102Asp)not specified [RCV004650613]uncertain significance2030722613072261Humanname
40814598CV971141duplicationNM_000915.4(OXT):c.-3_9dup (p.Gly3_Pro4insThrMetAlaGly)Neurodevelopmental disorder [RCV001262143]uncertain significance2030716503071651Human1name
405262576CV3196674single nucleotide variantNM_000916.4(OXTR):c.690C>T (p.Asn230=)OXTR-related disorder [RCV003967353]benign387674988767498Humanname , trait , alternate_id
405275679CV3199370single nucleotide variantNM_000916.4(OXTR):c.712G>A (p.Ala238Thr)OXTR-related disorder [RCV003916783]benign387674768767476Humanname , trait , alternate_id
405275139CV3204659single nucleotide variantNM_000916.4(OXTR):c.510G>T (p.Pro170=)OXTR-related disorder [RCV003952061]likely benign387676788767678Humanname , trait , alternate_id
405278933CV3220487single nucleotide variantNM_000916.4(OXTR):c.159G>A (p.Ala53=)OXTR-related disorder [RCV003976678]likely benign387680298768029Humanname , trait , alternate_id
15172764CV698297single nucleotide variantNM_000916.4(OXTR):c.1015G>A (p.Glu339Lys)OXTR-related disorder [RCV003903200]|not provided [RCV000950098]benign387531328753132Humanname , trait , alternate_id
15191898CV720646single nucleotide variantNM_000916.4(OXTR):c.1068C>A (p.Arg356=)OXTR-related disorder [RCV003948397]|not provided [RCV000888508]benign387530798753079Humanname , trait , alternate_id
156126047CV2350251single nucleotide variantNM_000916.4(OXTR):c.80G>C (p.Arg27Pro)not specified [RCV004202207]uncertain significance387681088768108Humanname
156136937CV2365076single nucleotide variantNM_000916.4(OXTR):c.56C>T (p.Ala19Val)not specified [RCV004224232]uncertain significance387681328768132Humanname
15113129CV709055single nucleotide variantNM_000916.4(OXTR):c.351C>T (p.Tyr117=)not provided [RCV000961430]benign387678378767837Humanname
15146397CV734308single nucleotide variantNM_000916.4(OXTR):c.360G>T (p.Val120=)not provided [RCV000900318]likely benign387678288767828Humanname
15187053CV764183single nucleotide variantNM_000916.4(OXTR):c.705C>A (p.Thr235=)not provided [RCV000931542]likely benign387674838767483Humanname
21068425CV795475single nucleotide variantNM_000916.4(OXTR):c.65G>A (p.Gly22Glu)not provided [RCV000997975]uncertain significance387681238768123Humanname
401741110CV2713380single nucleotide variantNM_000916.4(OXTR):c.172G>T (p.Ala58Ser)not specified [RCV004319004]uncertain significance387680168768016Humanname
405738997CV3371198single nucleotide variantNM_000916.4(OXTR):c.202C>T (p.Arg68Cys)not specified [RCV004497447]uncertain significance387679868767986Humanname
407478654CV3469952single nucleotide variantNM_000916.4(OXTR):c.202C>G (p.Arg68Gly)not specified [RCV004663950]uncertain significance387679868767986Humanname
598163181CV3995812single nucleotide variantNM_000916.4(OXTR):c.263T>C (p.Val88Ala)not specified [RCV005390943]uncertain significance387679258767925Humanname
15125331CV734307single nucleotide variantNM_000916.4(OXTR):c.1104G>A (p.Ser368=)not provided [RCV000896744]benign387530438753043Humanname
150510356CV1211598single nucleotide variantNM_000916.4(OXTR):c.652G>A (p.Ala218Thr)not provided [RCV001597390]benign387675368767536Humanname
156049282CV2271787single nucleotide variantNM_000916.4(OXTR):c.881T>A (p.Val294Glu)not specified [RCV004130625]uncertain significance387673078767307Humanname
156256658CV2368753single nucleotide variantNM_000916.4(OXTR):c.538G>C (p.Val180Leu)not specified [RCV004214635]uncertain significance387676508767650Humanname
155908263CV2387268single nucleotide variantNM_000916.4(OXTR):c.791A>G (p.Lys264Arg)not specified [RCV004238360]uncertain significance387673978767397Humanname
329401157CV2446201single nucleotide variantNM_000916.4(OXTR):c.541G>T (p.Ala181Ser)not specified [RCV004264604]uncertain significance387676478767647Humanname
401775208CV2709862single nucleotide variantNM_000916.4(OXTR):c.399G>A (p.Met133Ile)not specified [RCV004321159]uncertain significance387677898767789Humanname
401856537CV2764853single nucleotide variantNM_000916.4(OXTR):c.643G>C (p.Val215Leu)not specified [RCV004334948]uncertain significance387675458767545Humanname
401883125CV2785544single nucleotide variantNM_000916.4(OXTR):c.904G>A (p.Ala302Thr)not specified [RCV004363064]uncertain significance387672848767284Humanname
405739008CV3371199single nucleotide variantNM_000916.4(OXTR):c.298G>A (p.Asp100Asn)not specified [RCV004497448]uncertain significance387678908767890Humanname
405739023CV3371201single nucleotide variantNM_000916.4(OXTR):c.751G>A (p.Asp251Asn)not specified [RCV004497450]uncertain significance387674378767437Humanname
407427447CV3410682single nucleotide variantNM_000916.4(OXTR):c.409C>A (p.Arg137Ser)not specified [RCV004586329]uncertain significance387677798767779Humanname
407478649CV3469951single nucleotide variantNM_000916.4(OXTR):c.967T>G (p.Cys323Gly)not specified [RCV004663949]uncertain significance387531808753180Humanname
597692775CV3578086single nucleotide variantNM_000916.4(OXTR):c.535G>A (p.Glu179Lys)not specified [RCV004838845]uncertain significance387676538767653Humanname
597692797CV3578088single nucleotide variantNM_000916.4(OXTR):c.506C>T (p.Ala169Val)not specified [RCV004838847]likely benign387676828767682Humanname
597692809CV3578089single nucleotide variantNM_000916.4(OXTR):c.706G>A (p.Ala236Thr)not specified [RCV004838848]uncertain significance387674828767482Humanname
597656771CV3578090single nucleotide variantNM_000916.4(OXTR):c.707C>A (p.Ala236Asp)not specified [RCV004827535]uncertain significance387674818767481Humanname
597692820CV3578091single nucleotide variantNM_000916.4(OXTR):c.713C>G (p.Ala238Gly)not specified [RCV004838849]uncertain significance387674758767475Humanname
15156510CV698298single nucleotide variantNM_000916.4(OXTR):c.515T>C (p.Val172Ala)not provided [RCV000946712]benign387676738767673Humanname
15177029CV709054single nucleotide variantNM_000916.4(OXTR):c.616C>G (p.Leu206Val)not provided [RCV000973327]benign387675728767572Humanname
155999756CV2396472single nucleotide variantNM_000916.4(OXTR):c.1021G>A (p.Val341Met)not specified [RCV004242182]uncertain significance387531268753126Humanname
401864069CV2770902single nucleotide variantNM_000916.4(OXTR):c.1051T>C (p.Tyr351His)not specified [RCV004343574]uncertain significance387530968753096Humanname
405738990CV3371197single nucleotide variantNM_000916.4(OXTR):c.1066C>T (p.Arg356Cys)not specified [RCV004497446]uncertain significance387530818753081Humanname
407517284CV3469949single nucleotide variantNM_000916.4(OXTR):c.1163C>T (p.Thr388Met)not specified [RCV004650614]likely benign387529848752984Humanname
407517286CV3469950single nucleotide variantNM_000916.4(OXTR):c.1132T>C (p.Ser378Pro)not specified [RCV004650615]uncertain significance387530158753015Humanname
597692764CV3578085single nucleotide variantNM_000916.4(OXTR):c.1067G>A (p.Arg356His)not specified [RCV004838844]uncertain significance387530808753080Humanname
597692787CV3578087single nucleotide variantNM_000916.4(OXTR):c.1045G>A (p.Ala349Thr)not specified [RCV004838846]uncertain significance387531028753102Humanname