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66 records found for search term Hdc
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405700077CV3227224single nucleotide variantNM_002112.4(HDC):c.32-2A>GTourette syndrome [RCV003993575]likely pathogenic155026340950263409Human1name
156206729CV2385359single nucleotide variantNM_002112.4(HDC):c.5T>C (p.Met2Thr)not specified [RCV004230632]uncertain significance155026561950265619Humanname
401904288CV2817569single nucleotide variantNM_002112.4(HDC):c.75G>A (p.Val25=)HDC-related disorder [RCV003946544]|not provided [RCV003394837]likely benign155026336450263364Human1name , trait , alternate_id
156339696CV2229323single nucleotide variantNM_002112.4(HDC):c.10C>A (p.Pro4Thr)not specified [RCV004101115]uncertain significance155026561450265614Humanname
156347088CV2315118single nucleotide variantNM_002112.4(HDC):c.18G>C (p.Glu6Asp)not specified [RCV004165300]uncertain significance155026560650265606Humanname
150447108CV1216063single nucleotide variantNM_002112.4(HDC):c.92C>T (p.Thr31Met)HDC-related disorder [RCV003980777]|not provided [RCV001611361]benign155026334750263347Human1name , trait , alternate_id
156329735CV2216482single nucleotide variantNM_002112.4(HDC):c.76C>T (p.Arg26Trp)not specified [RCV004097284]uncertain significance155026336350263363Humanname
401904287CV2817568single nucleotide variantNM_002112.4(HDC):c.813C>T (p.His271=)not provided [RCV003394836]likely benign155025274950252749Humanname
405265287CV3195741single nucleotide variantNM_002112.4(HDC):c.561C>T (p.Ala187=)HDC-related disorder [RCV003897340]likely benign155025454550254545Humanname , trait , alternate_id
597781691CV3679155single nucleotide variantNM_002112.4(HDC):c.77G>A (p.Arg26Gln)not specified [RCV004930962]uncertain significance155026336250263362Humanname
597710669CV3679161single nucleotide variantNM_002112.4(HDC):c.56G>C (p.Cys19Ser)not specified [RCV004917485]uncertain significance155026338350263383Humanname
597710683CV3679163single nucleotide variantNM_002112.4(HDC):c.86G>A (p.Arg29His)not specified [RCV004917487]uncertain significance155026335350263353Humanname
598246839CV3967764single nucleotide variantNM_002112.4(HDC):c.42G>A (p.Met14Ile)not specified [RCV005345218]uncertain significance155026339750263397Humanname
15180170CV770217single nucleotide variantNM_002112.4(HDC):c.723C>T (p.Val241=)not provided [RCV000929819]likely benign155025366450253664Humanname
155918307CV2195849single nucleotide variantNM_002112.4(HDC):c.173T>C (p.Phe58Ser)not specified [RCV004076190]uncertain significance155026326650263266Humanname
405280229CV3191734single nucleotide variantNM_002112.4(HDC):c.1524T>C (p.Ser508=)HDC-related disorder [RCV003919868]likely benign155024272550242725Humanname , trait , alternate_id
405288351CV3197316single nucleotide variantNM_002112.4(HDC):c.1614T>C (p.Asn538=)HDC-related disorder [RCV003982412]benign155024263550242635Humanname , trait , alternate_id
405796246CV3266522single nucleotide variantNM_002112.4(HDC):c.149A>C (p.Asp50Ala)not specified [RCV004401514]uncertain significance155026329050263290Humanname
407428214CV3410135single nucleotide variantNM_002112.4(HDC):c.1188T>C (p.Pro396=)not specified [RCV004587742]likely benign155024319750243197Humanname
597781698CV3679159single nucleotide variantNM_002112.4(HDC):c.119G>A (p.Arg40Gln)not specified [RCV004930964]uncertain significance155026332050263320Humanname
15184559CV703238single nucleotide variantNM_002112.4(HDC):c.1743G>A (p.Thr581=)not provided [RCV000952738]benign155024250650242506Humanname
156294420CV2293188single nucleotide variantNM_002112.4(HDC):c.560C>T (p.Ala187Val)not specified [RCV004150701]uncertain significance155025454650254546Humanname
156340785CV2348046single nucleotide variantNM_002112.4(HDC):c.697C>G (p.Gln233Glu)not specified [RCV004197728]likely benign155025415350254153Humanname
156210224CV2370211single nucleotide variantNM_002112.4(HDC):c.701G>A (p.Arg234Gln)not specified [RCV004211089]uncertain significance155025414950254149Humanname
156160707CV2398214single nucleotide variantNM_002112.4(HDC):c.523G>A (p.Asp175Asn)not specified [RCV004235131]uncertain significance155025458350254583Humanname
329375220CV2431421single nucleotide variantNM_002112.4(HDC):c.794G>T (p.Arg265Leu)not specified [RCV004254586]uncertain significance155025276850252768Humanname
329399677CV2467597single nucleotide variantNM_002112.4(HDC):c.850C>A (p.Pro284Thr)HDC-related disorder [RCV004758270]|not specified [RCV004287465]uncertain significance155025271250252712Human1name , trait , alternate_id
8564523CV29951single nucleotide variantNM_002112.4(HDC):c.951G>A (p.Trp317Ter)Tourette syndrome [RCV000016047]pathogenic155025252050252520Human1name
405796257CV3266525single nucleotide variantNM_002112.4(HDC):c.355G>A (p.Val119Ile)not specified [RCV004401517]uncertain significance155025751150257511Humanname
405796261CV3266526single nucleotide variantNM_002112.4(HDC):c.460A>G (p.Thr154Ala)not specified [RCV004401518]uncertain significance155025464650254646Humanname
405796264CV3266527single nucleotide variantNM_002112.4(HDC):c.502G>C (p.Glu168Gln)not specified [RCV004401519]uncertain significance155025460450254604Humanname
405796267CV3266528single nucleotide variantNM_002112.4(HDC):c.524A>G (p.Asp175Gly)not specified [RCV004401520]likely benign155025458250254582Humanname
405796270CV3266529single nucleotide variantNM_002112.4(HDC):c.551G>A (p.Arg184Gln)not specified [RCV004401521]uncertain significance155025455550254555Humanname
405796272CV3266530single nucleotide variantNM_002112.4(HDC):c.889G>A (p.Asp297Asn)not specified [RCV004401522]uncertain significance155025267350252673Humanname
597710690CV3679164single nucleotide variantNM_002112.4(HDC):c.433G>A (p.Val145Ile)not specified [RCV004917488]uncertain significance155025743350257433Humanname
597927684CV3855542duplicationNM_002112.4(HDC):c.1896dup (p.Leu633fs)not provided [RCV005206141]uncertain significance155024235250242353Humanname
598266485CV3967765single nucleotide variantNM_002112.4(HDC):c.592G>C (p.Glu198Gln)not specified [RCV005349289]uncertain significance155025425850254258Humanname
126740084CV1021330single nucleotide variantNM_002112.4(HDC):c.1511C>A (p.Thr504Lys)Tourette syndrome [RCV001335910]uncertain significance155024273850242738Human1name
151350262CV1324652single nucleotide variantNM_002112.4(HDC):c.1568T>A (p.Ile523Asn)Tourette syndrome [RCV001809097]uncertain significance155024268150242681Human1name
156143862CV2200118single nucleotide variantNM_002112.4(HDC):c.1946G>A (p.Cys649Tyr)not specified [RCV004069691]uncertain significance155024230350242303Humanname
155924847CV2248880single nucleotide variantNM_002112.4(HDC):c.1771C>T (p.Pro591Ser)not specified [RCV004115888]uncertain significance155024247850242478Humanname
156207296CV2250028single nucleotide variantNM_002112.4(HDC):c.1775T>C (p.Val592Ala)not specified [RCV004122990]uncertain significance155024247450242474Humanname
156337211CV2267224single nucleotide variantNM_002112.4(HDC):c.1675G>A (p.Asp559Asn)not specified [RCV004133906]uncertain significance155024257450242574Humanname
156074372CV2376968single nucleotide variantNM_002112.4(HDC):c.1438A>G (p.Thr480Ala)not specified [RCV004229653]uncertain significance155024281150242811Humanname
156193221CV2397965single nucleotide variantNM_002112.4(HDC):c.1234C>T (p.Arg412Cys)not specified [RCV004241573]uncertain significance155024315150243151Humanname
329356532CV2460388single nucleotide variantNM_002112.4(HDC):c.1078G>C (p.Val360Leu)not specified [RCV004268702]uncertain significance155024830750248307Humanname
329399675CV2467596single nucleotide variantNM_002112.4(HDC):c.1556C>G (p.Ala519Gly)not specified [RCV004287464]uncertain significance155024269350242693Humanname
401746755CV2678910single nucleotide variantNM_002112.4(HDC):c.1583G>A (p.Arg528His)not specified [RCV004292881]uncertain significance155024266650242666Humanname
401737234CV2699765single nucleotide variantNM_002112.4(HDC):c.1456C>T (p.Arg486Trp)not specified [RCV004308421]uncertain significance155024279350242793Humanname
401860093CV2768480single nucleotide variantNM_002112.4(HDC):c.1555G>T (p.Ala519Ser)not specified [RCV004344365]uncertain significance155024269450242694Humanname
405282027CV3224700single nucleotide variantNM_002112.4(HDC):c.1133T>G (p.Val378Gly)Tourette syndrome [RCV003989036]uncertain significance155024825250248252Human1name
405796249CV3266523single nucleotide variantNM_002112.4(HDC):c.1511C>T (p.Thr504Met)not specified [RCV004401515]likely benign155024273850242738Humanname
405796254CV3266524single nucleotide variantNM_002112.4(HDC):c.1729A>T (p.Thr577Ser)not specified [RCV004401516]uncertain significance155024252050242520Humanname
407514576CV3440264single nucleotide variantNM_002112.4(HDC):c.1528A>G (p.Ser510Gly)not specified [RCV004627642]uncertain significance155024272150242721Humanname
597710650CV3679156single nucleotide variantNM_002112.4(HDC):c.1534G>T (p.Ala512Ser)not specified [RCV004917483]uncertain significance155024271550242715Humanname
597710660CV3679160single nucleotide variantNM_002112.4(HDC):c.1280T>C (p.Ile427Thr)not specified [RCV004917484]uncertain significance155024296950242969Humanname
597710677CV3679162single nucleotide variantNM_002112.4(HDC):c.1225G>C (p.Val409Leu)not specified [RCV004917486]uncertain significance155024316050243160Humanname
597710699CV3679165single nucleotide variantNM_002112.4(HDC):c.1534G>A (p.Ala512Thr)not specified [RCV004917489]uncertain significance155024271550242715Humanname
598266476CV3967762single nucleotide variantNM_002112.4(HDC):c.1294C>T (p.Arg432Cys)not specified [RCV005349287]uncertain significance155024295550242955Humanname
598266481CV3967763single nucleotide variantNM_002112.4(HDC):c.1315A>G (p.Thr439Ala)not specified [RCV005349288]uncertain significance155024293450242934Humanname
15200246CV703239single nucleotide variantNM_002112.4(HDC):c.1657T>C (p.Phe553Leu)not provided [RCV000957275]benign155024259250242592Humanname
15181212CV726117single nucleotide variantNM_002112.4(HDC):c.1480A>G (p.Ile494Val)not provided [RCV000885711]benign|likely benign155024276950242769Humanname
8627659CV82803single nucleotide variantNM_002112.3(HDC):c.1847C>T (p.Ser616Phe)Malignant melanoma [RCV000062883]not provided155024240250242402Humanname
8627660CV82804single nucleotide variantNM_002112.3(HDC):c.1174G>A (p.Val392Ile)Malignant melanoma [RCV000062884]not provided155024321150243211Humanname
8635491CV90712single nucleotide variantNM_002112.3(HDC):c.1609G>A (p.Glu537Lys)Malignant melanoma [RCV000070810]not provided155024264050242640Humanname
8635492CV90713single nucleotide variantNM_002112.3(HDC):c.1372G>A (p.Asp458Asn)Malignant melanoma [RCV000070811]not provided155024287750242877Humanname