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75 records found for search term Syncrip
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
408392503CV3528155single nucleotide variantNM_006372.5(SYNCRIP):c.-1C>Anot provided [RCV004775923]uncertain significance68564144085641440Humanname
598226357CV3894372single nucleotide variantNM_006372.5(SYNCRIP):c.-43C>Tnot provided [RCV005257615]likely benign68564282785642827Humanname
156037258CV2278821single nucleotide variantNM_006372.5(SYNCRIP):c.15T>A (p.His5Gln)Inborn genetic diseases [RCV002845814]uncertain significance68564142585641425Human1name
156066427CV2381008single nucleotide variantNM_006372.5(SYNCRIP):c.64A>G (p.Ile22Val)Inborn genetic diseases [RCV002693722]uncertain significance68564137685641376Human1name
42723677CV984577single nucleotide variantNM_006372.5(SYNCRIP):c.47A>G (p.Asp16Gly)See cases [RCV001291666]uncertain significance68564139385641393Humanname
155990531CV2280957single nucleotide variantNM_006372.5(SYNCRIP):c.171A>T (p.Leu57Phe)Inborn genetic diseases [RCV002882399]uncertain significance68564054285640542Human1name
401798414CV2741510duplicationNM_006372.5(SYNCRIP):c.438dup (p.Pro147fs)SYNCRIP-associated neurodevelopmental disorder [RCV003322729]likely pathogenic68563729385637294Humanname , trait
401915836CV2820522single nucleotide variantNM_006372.5(SYNCRIP):c.1554C>T (p.Arg518=)SYNCRIP-related disorder [RCV003946607]|not provided [RCV003428882]benign68561507485615074Human1name , trait , alternate_id
405260847CV3204333single nucleotide variantNM_006372.5(SYNCRIP):c.1776G>A (p.Gln592=)SYNCRIP-related disorder [RCV003944168]likely benign68561485285614852Humanname , trait , alternate_id
405290541CV3207552single nucleotide variantNM_006372.5(SYNCRIP):c.1788A>G (p.Gln596=)SYNCRIP-related disorder [RCV003927128]likely benign68561484085614840Humanname , trait , alternate_id
405271086CV3218932single nucleotide variantNM_006372.5(SYNCRIP):c.1644C>T (p.Arg548=)SYNCRIP-related disorder [RCV003971671]likely benign68561498485614984Humanname , trait , alternate_id
596929245CV3540882single nucleotide variantNM_006372.5(SYNCRIP):c.233A>G (p.Gln78Arg)not provided [RCV004795211]uncertain significance68564048085640480Humanname
28904146CV859565duplicationNM_006372.5(SYNCRIP):c.854dup (p.Asn285fs)not provided [RCV001093188]uncertain significance68562263585622636Humanname
150540748CV1298470deletionNM_006372.5(SYNCRIP):c.1215del (p.Phe405fs)not provided [RCV001760618]uncertain significance68561888385618883Humanname
150542157CV1302510single nucleotide variantNM_006372.5(SYNCRIP):c.489G>C (p.Glu163Asp)not provided [RCV001761200]uncertain significance68563724385637243Humanname
151717344CV1334921single nucleotide variantNM_006372.5(SYNCRIP):c.646G>A (p.Ala216Thr)Inborn genetic diseases [RCV002543287]|not provided [RCV001843879]likely pathogenic|uncertain significance68563698785636987Human1name
152982226CV1677178single nucleotide variantNM_006372.5(SYNCRIP):c.700A>G (p.Ile234Val)not specified [RCV002248883]uncertain significance68562407985624079Humanname
156442205CV1938118single nucleotide variantNM_006372.5(SYNCRIP):c.728A>G (p.Asn243Ser)not provided [RCV003112544]uncertain significance68562405185624051Humanname
156139540CV2280756single nucleotide variantNM_006372.5(SYNCRIP):c.626C>T (p.Thr209Ile)Inborn genetic diseases [RCV002850212]uncertain significance68563700785637007Human1name
156179434CV2327663single nucleotide variantNM_006372.5(SYNCRIP):c.539C>A (p.Pro180Gln)Inborn genetic diseases [RCV002930319]uncertain significance68563709485637094Human1name
401731068CV2674249single nucleotide variantNM_006372.5(SYNCRIP):c.662A>C (p.Lys221Thr)Inborn genetic diseases [RCV003248472]uncertain significance68563697185636971Human1name
401739796CV2738629single nucleotide variantNM_006372.5(SYNCRIP):c.560C>T (p.Pro187Leu)not provided [RCV003318023]uncertain significance68563707385637073Humanname
401796378CV2740561single nucleotide variantNM_006372.5(SYNCRIP):c.485C>A (p.Thr162Asn)not provided [RCV003321231]uncertain significance68563724785637247Humanname
402506823CV2927848single nucleotide variantNM_006372.5(SYNCRIP):c.944G>A (p.Gly315Glu)not provided [RCV003574477]uncertain significance68562254685622546Humanname
405273634CV3198123single nucleotide variantNM_006372.5(SYNCRIP):c.302C>T (p.Thr101Ile)SYNCRIP-related disorder [RCV003901894]uncertain significance68564029485640294Humanname , trait , alternate_id
408392619CV3525301single nucleotide variantNM_006372.5(SYNCRIP):c.625A>G (p.Thr209Ala)not provided [RCV004771187]uncertain significance68563700885637008Humanname
408387506CV3527084single nucleotide variantNM_006372.5(SYNCRIP):c.346A>G (p.Ser116Gly)not provided [RCV004773386]uncertain significance68564025085640250Humanname
597633860CV3609162single nucleotide variantNM_006372.5(SYNCRIP):c.936G>T (p.Lys312Asn)Inborn genetic diseases [RCV004969190]uncertain significance68562255485622554Human1name
598235878CV3893520single nucleotide variantNM_006372.5(SYNCRIP):c.848A>G (p.Lys283Arg)not provided [RCV005256253]uncertain significance68562264285622642Humanname
598263888CV3923228single nucleotide variantNM_006372.5(SYNCRIP):c.641A>C (p.Glu214Ala)Inborn genetic diseases [RCV005280642]uncertain significance68563699285636992Human1name
598223483CV3923229single nucleotide variantNM_006372.5(SYNCRIP):c.778C>G (p.Leu260Val)Inborn genetic diseases [RCV005293960]uncertain significance68562400185624001Human1name
598263891CV3923230single nucleotide variantNM_006372.5(SYNCRIP):c.361G>A (p.Glu121Lys)Inborn genetic diseases [RCV005280643]uncertain significance68564023585640235Human1name
42723478CV984323single nucleotide variantNM_006372.5(SYNCRIP):c.629T>C (p.Phe210Ser)Autism spectrum disorder [RCV001291386]association68563700485637004Human2name
151728887CV1517586single nucleotide variantNM_006372.5(SYNCRIP):c.1368T>G (p.Tyr456Ter)SYNCRIP-related neurodevelopmental disorder [RCV002052202]likely pathogenic|uncertain significance68561526085615260Human1name , trait
156414348CV1916009single nucleotide variantNM_006372.5(SYNCRIP):c.1642C>T (p.Arg548Cys)not provided [RCV002588557]uncertain significance68561498685614986Humanname
156248864CV2192663single nucleotide variantNM_006372.5(SYNCRIP):c.1275T>A (p.Asn425Lys)not provided [RCV003059947]uncertain significance68561882385618823Humanname
156128696CV2238475single nucleotide variantNM_006372.5(SYNCRIP):c.1564G>A (p.Gly522Ser)Inborn genetic diseases [RCV002762790]uncertain significance68561506485615064Human1name
156281367CV2321860single nucleotide variantNM_006372.5(SYNCRIP):c.1823C>G (p.Ser608Cys)Inborn genetic diseases [RCV002921735]uncertain significance68561480585614805Human1name
156273169CV2344091single nucleotide variantNM_006372.5(SYNCRIP):c.1040A>G (p.Asn347Ser)Inborn genetic diseases [RCV002988903]uncertain significance68561938685619386Human1name
401738259CV2676182single nucleotide variantNM_006372.5(SYNCRIP):c.1835A>T (p.Glu612Val)Inborn genetic diseases [RCV003240109]likely benign68561479385614793Human1name
401829911CV2747606single nucleotide variantNM_006372.5(SYNCRIP):c.1802C>G (p.Ser601Cys)not provided [RCV003329072]uncertain significance68561482685614826Humanname
401863490CV2776939single nucleotide variantNM_006372.5(SYNCRIP):c.1036G>A (p.Ala346Thr)Inborn genetic diseases [RCV003378623]uncertain significance68561939085619390Human1name
401876439CV2785895single nucleotide variantNM_006372.5(SYNCRIP):c.1640G>T (p.Gly547Val)Inborn genetic diseases [RCV003383405]uncertain significance68561498885614988Human1name
401936485CV2798572single nucleotide variantNM_006372.5(SYNCRIP):c.1864T>C (p.Trp622Arg)SYNCRIP-related disorder [RCV003414497]uncertain significance68561476485614764Humanname , trait , alternate_id
401933636CV2799406single nucleotide variantNM_006372.5(SYNCRIP):c.1682T>G (p.Val561Gly)SYNCRIP-related disorder [RCV003410510]uncertain significance68561494685614946Humanname , trait , alternate_id
401933620CV2802269single nucleotide variantNM_006372.5(SYNCRIP):c.1523C>T (p.Pro508Leu)SYNCRIP-related disorder [RCV003410494]uncertain significance68561510585615105Humanname , trait , alternate_id
405724594CV3324178single nucleotide variantNM_006372.5(SYNCRIP):c.1324C>G (p.Pro442Ala)Inborn genetic diseases [RCV004463589]uncertain significance68561530485615304Human1name
405724601CV3324179single nucleotide variantNM_006372.5(SYNCRIP):c.1603G>A (p.Val535Ile)Inborn genetic diseases [RCV004463590]uncertain significance68561502585615025Human1name
405724609CV3324180single nucleotide variantNM_006372.5(SYNCRIP):c.1742A>G (p.Asn581Ser)Inborn genetic diseases [RCV004463591]uncertain significance68561488685614886Human1name
405724619CV3324181single nucleotide variantNM_006372.5(SYNCRIP):c.1811A>G (p.Tyr604Cys)Inborn genetic diseases [RCV004463592]benign68561481785614817Human1name
405724628CV3324182single nucleotide variantNM_006372.5(SYNCRIP):c.1863G>T (p.Gln621His)Inborn genetic diseases [RCV004463593]uncertain significance68561476585614765Human1name
407530269CV3478222single nucleotide variantNM_006372.5(SYNCRIP):c.1849A>T (p.Thr617Ser)Inborn genetic diseases [RCV004681817]uncertain significance68561477985614779Human1name
407505519CV3478223single nucleotide variantNM_006372.5(SYNCRIP):c.1570T>G (p.Ser524Ala)Inborn genetic diseases [RCV004670860]uncertain significance68561505885615058Human1name
407530271CV3478226single nucleotide variantNM_006372.5(SYNCRIP):c.1700C>T (p.Ala567Val)Inborn genetic diseases [RCV004681819]uncertain significance68561492885614928Human1name
408366029CV3513014single nucleotide variantNM_006372.5(SYNCRIP):c.1567T>C (p.Tyr523His)SYNCRIP-related disorder [RCV004755462]uncertain significance68561506185615061Humanname , trait , alternate_id
408393779CV3519928single nucleotide variantNM_006372.5(SYNCRIP):c.1529G>A (p.Arg510Lys)not provided [RCV004764224]uncertain significance68561509985615099Humanname
408388578CV3522727single nucleotide variantNM_006372.5(SYNCRIP):c.1319C>T (p.Pro440Leu)not provided [RCV004769108]uncertain significance68561530985615309Humanname
408388615CV3529065single nucleotide variantNM_006372.5(SYNCRIP):c.1162A>G (p.Met388Val)not provided [RCV004773887]uncertain significance68561893685618936Humanname
408389129CV3529232single nucleotide variantNM_006372.5(SYNCRIP):c.1752C>G (p.Asn584Lys)not provided [RCV004774054]uncertain significance68561487685614876Humanname
596921658CV3535280single nucleotide variantNM_006372.5(SYNCRIP):c.1342C>T (p.Arg448Cys)not provided [RCV004784839]uncertain significance68561528685615286Humanname
596944461CV3543402single nucleotide variantNM_006372.5(SYNCRIP):c.1328C>A (p.Thr443Lys)not provided [RCV004801523]uncertain significance68561530085615300Humanname
597633843CV3609158single nucleotide variantNM_006372.5(SYNCRIP):c.1457A>G (p.Tyr486Cys)Inborn genetic diseases [RCV004969186]uncertain significance68561517185615171Human1name
597633847CV3609159single nucleotide variantNM_006372.5(SYNCRIP):c.1126A>G (p.Ile376Val)Inborn genetic diseases [RCV004969187]likely benign68561930085619300Human1name
597633852CV3609160single nucleotide variantNM_006372.5(SYNCRIP):c.1419T>G (p.Asp473Glu)Inborn genetic diseases [RCV004969188]uncertain significance68561520985615209Human1name
597633858CV3609161single nucleotide variantNM_006372.5(SYNCRIP):c.1621G>T (p.Gly541Cys)Inborn genetic diseases [RCV004969189]uncertain significance68561500785615007Human1name
597716019CV3733232single nucleotide variantNM_006372.5(SYNCRIP):c.1808A>C (p.Asn603Thr)not provided [RCV005052422]uncertain significance68561482085614820Humanname
598128877CV3886677single nucleotide variantNM_006372.5(SYNCRIP):c.1400A>T (p.Tyr467Phe)not provided [RCV005244337]likely benign68561522885615228Humanname
598200751CV3892700single nucleotide variantNM_006372.5(SYNCRIP):c.1043C>T (p.Thr348Ile)not provided [RCV005254533]uncertain significance68561938385619383Humanname
39456932CV966259single nucleotide variantNM_006372.5(SYNCRIP):c.1561G>A (p.Ala521Thr)SYNCRIP-related Intellectual Disability [RCV004799387]uncertain significance68561506785615067Humanname , trait
40889909CV975210microsatelliteNM_006372.5(SYNCRIP):c.858_859del (p.Gly287fs)not provided [RCV001268424]likely pathogenic68562263185622632Humanname
407530270CV3478225deletionNM_006372.5(SYNCRIP):c.852_854del (p.Lys284del)Inborn genetic diseases [RCV004681818]uncertain significance68562263685622638Human1name
407427421CV3411889deletionNM_006372.5(SYNCRIP):c.1564_1568del (p.Gly522fs)not provided [RCV004592060]uncertain significance68561506085615064Humanname
407505520CV3478224deletionNM_006372.5(SYNCRIP):c.817_828del (p.Val273_Tyr276del)Inborn genetic diseases [RCV004670861]uncertain significance68562266285622673Human1name
42723479CV984322indelNM_006372.5(SYNCRIP):c.1573_1574delinsTT (p.Gln525Leu)Autism spectrum disorder [RCV001291387]association68561505485615055Humanname
401830228CV2747944copy number lossGRCh37/hg19 6q14.3(chr6:86281805-86351207)x1SYNCRIP-associated neurodevelopmental disorder [RCV003329561]likely pathogenicHumantrait