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66 records found for search term Tmem63c
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405771896CV3346663single nucleotide variantNM_020431.4(TMEM63C):c.7G>C (p.Ala3Pro)not specified [RCV004470434]uncertain significance147721882077218820Humanname
401761820CV2713909single nucleotide variantNM_020431.4(TMEM63C):c.16G>C (p.Asp6His)not specified [RCV004315340]uncertain significance147721882977218829Humanname
8635294CV90516single nucleotide variantNM_020431.3(TMEM63C):c.11C>T (p.Ser4Leu)Malignant melanoma [RCV000070614]not provided147721882477218824Humanname
401902196CV2810609single nucleotide variantNM_020431.4(TMEM63C):c.735T>C (p.Tyr245=)not provided [RCV003393531]likely benign147723942177239421Humanname
405771902CV3346664single nucleotide variantNM_020431.4(TMEM63C):c.85G>A (p.Val29Ile)not specified [RCV004470435]uncertain significance147721889877218898Humanname
598227347CV3914004single nucleotide variantNM_020431.4(TMEM63C):c.31G>A (p.Gly11Arg)not specified [RCV005294575]uncertain significance147721884477218844Humanname
156168149CV2237294single nucleotide variantNM_020431.4(TMEM63C):c.286T>C (p.Ser96Pro)not specified [RCV004115014]uncertain significance147722006177220061Humanname
401895367CV2786408single nucleotide variantNM_020431.4(TMEM63C):c.203G>T (p.Arg68Leu)not specified [RCV004361996]uncertain significance147721955077219550Humanname
405771852CV3346656single nucleotide variantNM_020431.4(TMEM63C):c.139G>A (p.Ala47Thr)not specified [RCV004470427]uncertain significance147721895277218952Humanname
405771879CV3346660single nucleotide variantNM_020431.4(TMEM63C):c.229A>G (p.Ser77Gly)not specified [RCV004470431]uncertain significance147721957677219576Humanname
407526877CV3482807single nucleotide variantNM_020431.4(TMEM63C):c.202C>T (p.Arg68Cys)not specified [RCV004679799]uncertain significance147721954977219549Humanname
407526880CV3482808single nucleotide variantNM_020431.4(TMEM63C):c.1431C>T (p.Leu477=)not specified [RCV004679800]likely benign147724443877244438Humanname
597800607CV3610638single nucleotide variantNM_020431.4(TMEM63C):c.115C>T (p.Pro39Ser)not specified [RCV004880297]uncertain significance147721892877218928Humanname
598227366CV3914009single nucleotide variantNM_020431.4(TMEM63C):c.275C>T (p.Pro92Leu)not specified [RCV005294578]uncertain significance147722005077220050Humanname
152980034CV1678361single nucleotide variantNM_020431.4(TMEM63C):c.343A>G (p.Thr115Ala)not specified [RCV002246866]benign147722545477225454Humanname
153305080CV1690816deletionNM_020431.4(TMEM63C):c.1216del (p.Trp406fs)Spastic paraplegia 87, autosomal recessive [RCV002271350]pathogenic147724292877242928Human1name
153305081CV1690817single nucleotide variantNM_020431.4(TMEM63C):c.585C>G (p.Tyr195Ter)Spastic paraplegia 87, autosomal recessive [RCV002271351]pathogenic147723666677236666Human1name
153305082CV1690818duplicationNM_020431.4(TMEM63C):c.1572dup (p.Tyr525fs)Spastic paraplegia 87, autosomal recessive [RCV002271352]pathogenic147724664477246645Human1name
156398869CV2194837single nucleotide variantNM_020431.4(TMEM63C):c.811C>T (p.His271Tyr)not specified [RCV004075375]uncertain significance147723960777239607Humanname
156063866CV2331044single nucleotide variantNM_020431.4(TMEM63C):c.523A>G (p.Ile175Val)not specified [RCV004188082]uncertain significance147723348177233481Humanname
156169704CV2337384single nucleotide variantNM_020431.4(TMEM63C):c.893G>A (p.Arg298His)not specified [RCV004187829]uncertain significance147723968977239689Humanname
155959346CV2390517single nucleotide variantNM_020431.4(TMEM63C):c.752C>G (p.Thr251Arg)not specified [RCV004239053]uncertain significance147723943877239438Humanname
156226713CV2401226single nucleotide variantNM_020431.4(TMEM63C):c.515G>A (p.Arg172Gln)not specified [RCV004245778]uncertain significance147723347377233473Humanname
401730349CV2680142single nucleotide variantNM_020431.4(TMEM63C):c.389G>A (p.Arg130His)not specified [RCV004286627]uncertain significance147723162677231626Humanname
401857988CV2763151single nucleotide variantNM_020431.4(TMEM63C):c.385G>A (p.Ala129Thr)not specified [RCV004336194]uncertain significance147723162277231622Humanname
405771884CV3346661single nucleotide variantNM_020431.4(TMEM63C):c.397A>G (p.Ile133Val)not specified [RCV004470432]uncertain significance147723163477231634Humanname
405771891CV3346662single nucleotide variantNM_020431.4(TMEM63C):c.655A>T (p.Thr219Ser)not specified [RCV004470433]uncertain significance147723869777238697Humanname
407526868CV3482804single nucleotide variantNM_020431.4(TMEM63C):c.644G>A (p.Ser215Asn)not specified [RCV004679796]uncertain significance147723672577236725Humanname
407526883CV3482809single nucleotide variantNM_020431.4(TMEM63C):c.994C>T (p.Leu332Phe)not specified [RCV004679801]uncertain significance147724053877240538Humanname
597800599CV3610634single nucleotide variantNM_020431.4(TMEM63C):c.319T>C (p.Cys107Arg)not specified [RCV004880293]uncertain significance147722543077225430Humanname
597800611CV3610640single nucleotide variantNM_020431.4(TMEM63C):c.554T>C (p.Leu185Pro)not specified [RCV004880299]uncertain significance147723663577236635Humanname
598252651CV3914005single nucleotide variantNM_020431.4(TMEM63C):c.674C>A (p.Thr225Asn)not specified [RCV005278121]uncertain significance147723871677238716Humanname
156272923CV2195354single nucleotide variantNM_020431.4(TMEM63C):c.2269G>A (p.Ala757Thr)not specified [RCV004080273]uncertain significance147725657477256574Humanname
156106502CV2217864single nucleotide variantNM_020431.4(TMEM63C):c.1718G>A (p.Arg573His)not specified [RCV004084033]uncertain significance147724846377248463Humanname
156039794CV2219413single nucleotide variantNM_020431.4(TMEM63C):c.2361G>T (p.Glu787Asp)not specified [RCV004095217]uncertain significance147725666677256666Humanname
156287533CV2229639single nucleotide variantNM_020431.4(TMEM63C):c.1393G>C (p.Val465Leu)not specified [RCV004103453]uncertain significance147724440077244400Humanname
156081579CV2244332single nucleotide variantNM_020431.4(TMEM63C):c.1204C>T (p.Arg402Cys)not specified [RCV004100318]uncertain significance147724291977242919Humanname
156168298CV2279983single nucleotide variantNM_020431.4(TMEM63C):c.1406T>A (p.Leu469Gln)not specified [RCV004146349]uncertain significance147724441377244413Humanname
156006289CV2288727single nucleotide variantNM_020431.4(TMEM63C):c.1398A>G (p.Ile466Met)not specified [RCV004147952]uncertain significance147724440577244405Humanname
156087557CV2295435single nucleotide variantNM_020431.4(TMEM63C):c.1788T>G (p.Phe596Leu)not specified [RCV004160555]uncertain significance147724879077248790Humanname
155903552CV2353599single nucleotide variantNM_020431.4(TMEM63C):c.2128C>T (p.Arg710Trp)not specified [RCV004199576]uncertain significance147725187877251878Humanname
156069338CV2381233single nucleotide variantNM_020431.4(TMEM63C):c.1208G>A (p.Arg403His)not specified [RCV004227299]uncertain significance147724292377242923Humanname
155933026CV2399250single nucleotide variantNM_020431.4(TMEM63C):c.2386G>A (p.Gly796Arg)not specified [RCV004242549]uncertain significance147725669177256691Humanname
401854338CV2766657single nucleotide variantNM_020431.4(TMEM63C):c.2032C>T (p.Arg678Trp)not specified [RCV004347266]uncertain significance147724945277249452Humanname
401885524CV2768224single nucleotide variantNM_020431.4(TMEM63C):c.1748G>A (p.Arg583Lys)not specified [RCV004350222]uncertain significance147724849377248493Humanname
405771839CV3346654single nucleotide variantNM_020431.4(TMEM63C):c.1132G>A (p.Val378Ile)not specified [RCV004470425]uncertain significance147724241477242414Humanname
405771845CV3346655single nucleotide variantNM_020431.4(TMEM63C):c.1322G>A (p.Arg441His)not specified [RCV004470426]uncertain significance147724303777243037Humanname
405771859CV3346657single nucleotide variantNM_020431.4(TMEM63C):c.1540G>C (p.Asp514His)not specified [RCV004470428]uncertain significance147724661377246613Humanname
405771866CV3346658single nucleotide variantNM_020431.4(TMEM63C):c.1754A>G (p.Asn585Ser)not specified [RCV004470429]uncertain significance147724849977248499Humanname
405771873CV3346659single nucleotide variantNM_020431.4(TMEM63C):c.1917G>T (p.Met639Ile)not specified [RCV004470430]uncertain significance147724933777249337Humanname
407526871CV3482805single nucleotide variantNM_020431.4(TMEM63C):c.1321C>T (p.Arg441Cys)not specified [RCV004679797]uncertain significance147724303677243036Humanname
597800597CV3610633single nucleotide variantNM_020431.4(TMEM63C):c.1130T>C (p.Ile377Thr)not specified [RCV004880292]uncertain significance147724241277242412Humanname
597800601CV3610635single nucleotide variantNM_020431.4(TMEM63C):c.1802C>T (p.Ala601Val)not specified [RCV004880294]uncertain significance147724880477248804Humanname
597800603CV3610636single nucleotide variantNM_020431.4(TMEM63C):c.1070G>A (p.Arg357His)not specified [RCV004880295]uncertain significance147724235277242352Humanname
597800605CV3610637single nucleotide variantNM_020431.4(TMEM63C):c.1144T>A (p.Tyr382Asn)not specified [RCV004880296]uncertain significance147724242677242426Humanname
597800609CV3610639single nucleotide variantNM_020431.4(TMEM63C):c.1814A>G (p.Asn605Ser)not specified [RCV004880298]uncertain significance147724881677248816Humanname
598227353CV3914007single nucleotide variantNM_020431.4(TMEM63C):c.1553G>A (p.Arg518His)not specified [RCV005294576]uncertain significance147724662677246626Humanname
598227359CV3914008single nucleotide variantNM_020431.4(TMEM63C):c.2033G>A (p.Arg678Gln)not specified [RCV005294577]uncertain significance147724945377249453Humanname
598227375CV3914010single nucleotide variantNM_020431.4(TMEM63C):c.1177G>A (p.Asp393Asn)not specified [RCV005294579]uncertain significance147724245977242459Humanname
598252667CV3914011single nucleotide variantNM_020431.4(TMEM63C):c.1770G>T (p.Gln590His)not specified [RCV005278123]uncertain significance147724877277248772Humanname
598227382CV3914012single nucleotide variantNM_020431.4(TMEM63C):c.1109A>G (p.Gln370Arg)not specified [RCV005294580]uncertain significance147724239177242391Humanname
598227388CV3914013single nucleotide variantNM_020431.4(TMEM63C):c.2362C>A (p.Leu788Ile)not specified [RCV005294581]uncertain significance147725666777256667Humanname
598252674CV3914014single nucleotide variantNM_020431.4(TMEM63C):c.1524G>A (p.Met508Ile)not specified [RCV005278124]uncertain significance147724601577246015Humanname
598227395CV3914015single nucleotide variantNM_020431.4(TMEM63C):c.1349T>C (p.Ile450Thr)not specified [RCV005294582]uncertain significance147724435677244356Humanname
8635295CV90517single nucleotide variantNM_020431.3(TMEM63C):c.1964C>T (p.Ala655Val)Malignant melanoma [RCV000070615]not provided147724938477249384Humanname
153305079CV1690815indelNM_020431.4(TMEM63C):c.1641_1656delinsGGC (p.Asn547fs)Spastic paraplegia 87, autosomal recessive [RCV002271349]pathogenic147724838677248401Humanname