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)


48 records found for search term Ubac1
Refine Term:
Assembly:
    Chr  
Sort By:
           Export CSV TAB Print

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
156310508CV2260050single nucleotide variantNM_016172.3(UBAC1):c.67G>A (p.Gly23Ser)not specified [RCV004119059]uncertain significance9135961096135961096Humanname
329396608CV2462804single nucleotide variantNM_016172.3(UBAC1):c.70G>A (p.Ala24Thr)not specified [RCV004278717]uncertain significance9135961093135961093Humanname
597803126CV3625714single nucleotide variantNM_016172.3(UBAC1):c.52A>C (p.Ile18Leu)not specified [RCV004881585]uncertain significance9135961111135961111Humanname
8626685CV81829single nucleotide variantNM_016172.2(UBAC1):c.780C>T (p.Ala260=)Malignant melanoma [RCV000061907]not provided9135945124135945124Humanname
156130186CV2357953single nucleotide variantNM_016172.3(UBAC1):c.283C>T (p.Arg95Cys)not specified [RCV004209735]uncertain significance9135953730135953730Humanname
401855398CV2757304single nucleotide variantNM_016172.3(UBAC1):c.179A>G (p.His60Arg)not specified [RCV004338892]uncertain significance9135955375135955375Humanname
405814235CV3341192single nucleotide variantNM_016172.3(UBAC1):c.130C>T (p.Leu44Phe)not specified [RCV004484267]uncertain significance9135961033135961033Humanname
405814237CV3341193single nucleotide variantNM_016172.3(UBAC1):c.227G>C (p.Arg76Thr)not specified [RCV004484268]uncertain significance9135955327135955327Humanname
407522547CV3490971single nucleotide variantNM_016172.3(UBAC1):c.284G>A (p.Arg95His)not specified [RCV004677727]uncertain significance9135953729135953729Humanname
15176452CV711861single nucleotide variantNM_016172.3(UBAC1):c.145C>T (p.His49Tyr)not provided [RCV000973190]benign9135955409135955409Humanname
156141630CV2199952single nucleotide variantNM_016172.3(UBAC1):c.985C>T (p.Arg329Trp)not specified [RCV004074124]uncertain significance9135938339135938339Humanname
156142603CV2200026single nucleotide variantNM_016172.3(UBAC1):c.796A>C (p.Thr266Pro)not specified [RCV004074186]uncertain significance9135945108135945108Humanname
156387425CV2221501single nucleotide variantNM_016172.3(UBAC1):c.365A>T (p.Glu122Val)not specified [RCV004096775]uncertain significance9135947874135947874Humanname
155944841CV2269349single nucleotide variantNM_016172.3(UBAC1):c.792C>G (p.Ser264Arg)not specified [RCV004124486]uncertain significance9135945112135945112Humanname
156085806CV2295281single nucleotide variantNM_016172.3(UBAC1):c.817G>A (p.Glu273Lys)not specified [RCV004158654]uncertain significance9135945087135945087Humanname
156000051CV2296267single nucleotide variantNM_016172.3(UBAC1):c.763G>A (p.Ala255Thr)not specified [RCV004154171]uncertain significance9135945141135945141Humanname
156092739CV2302534single nucleotide variantNM_016172.3(UBAC1):c.335A>G (p.Lys112Arg)not specified [RCV004161254]uncertain significance9135947904135947904Humanname
156193311CV2325812single nucleotide variantNM_016172.3(UBAC1):c.446A>C (p.Gln149Pro)not specified [RCV004173695]uncertain significance9135946367135946367Humanname
156197652CV2334317single nucleotide variantNM_016172.3(UBAC1):c.593G>A (p.Arg198Gln)not specified [RCV004188297]uncertain significance9135945949135945949Humanname
156086701CV2336781single nucleotide variantNM_016172.3(UBAC1):c.998C>T (p.Pro333Leu)not specified [RCV004190404]uncertain significance9135938326135938326Humanname
155990683CV2352523single nucleotide variantNM_016172.3(UBAC1):c.644A>G (p.Gln215Arg)not specified [RCV004203025]likely benign9135945898135945898Humanname
156063642CV2380507single nucleotide variantNM_016172.3(UBAC1):c.781G>A (p.Ala261Thr)not specified [RCV004218099]uncertain significance9135945123135945123Humanname
156213298CV2385840single nucleotide variantNM_016172.3(UBAC1):c.518C>T (p.Ala173Val)not specified [RCV004226887]uncertain significance9135946295135946295Humanname
329362769CV2449332single nucleotide variantNM_016172.3(UBAC1):c.824C>T (p.Thr275Met)not specified [RCV004266500]uncertain significance9135945080135945080Humanname
401760663CV2695119single nucleotide variantNM_016172.3(UBAC1):c.531T>G (p.Phe177Leu)not specified [RCV004303275]uncertain significance9135946282135946282Humanname
401890581CV2778900single nucleotide variantNM_016172.3(UBAC1):c.407T>C (p.Met136Thr)not specified [RCV004346781]uncertain significance9135947832135947832Humanname
405814238CV3341194single nucleotide variantNM_016172.3(UBAC1):c.398C>T (p.Ser133Phe)not specified [RCV004484269]uncertain significance9135947841135947841Humanname
405814240CV3341195single nucleotide variantNM_016172.3(UBAC1):c.503C>T (p.Ala168Val)not specified [RCV004484270]uncertain significance9135946310135946310Humanname
405814242CV3341196single nucleotide variantNM_016172.3(UBAC1):c.605A>C (p.Glu202Ala)not specified [RCV004484271]uncertain significance9135945937135945937Humanname
405814244CV3341197single nucleotide variantNM_016172.3(UBAC1):c.733G>C (p.Ala245Pro)not specified [RCV004484272]uncertain significance9135945171135945171Humanname
407522550CV3490973single nucleotide variantNM_016172.3(UBAC1):c.782C>T (p.Ala261Val)not specified [RCV004677728]uncertain significance9135945122135945122Humanname
597803117CV3625710single nucleotide variantNM_016172.3(UBAC1):c.412C>T (p.Arg138Trp)not specified [RCV004881581]uncertain significance9135947827135947827Humanname
597803120CV3625711single nucleotide variantNM_016172.3(UBAC1):c.338A>G (p.Lys113Arg)not specified [RCV004881582]uncertain significance9135947901135947901Humanname
597803122CV3625712single nucleotide variantNM_016172.3(UBAC1):c.865G>C (p.Ala289Pro)not specified [RCV004881583]uncertain significance9135945039135945039Humanname
597803124CV3625713single nucleotide variantNM_016172.3(UBAC1):c.470T>C (p.Val157Ala)not specified [RCV004881584]uncertain significance9135946343135946343Humanname
597803130CV3625716single nucleotide variantNM_016172.3(UBAC1):c.617C>T (p.Pro206Leu)not specified [RCV004881587]uncertain significance9135945925135945925Humanname
598232682CV3932601single nucleotide variantNM_016172.3(UBAC1):c.967G>C (p.Glu323Gln)not specified [RCV005295447]uncertain significance9135938357135938357Humanname
598232687CV3932602single nucleotide variantNM_016172.3(UBAC1):c.811A>G (p.Arg271Gly)not specified [RCV005295448]uncertain significance9135945093135945093Humanname
598264689CV3932604single nucleotide variantNM_016172.3(UBAC1):c.872C>G (p.Ala291Gly)not specified [RCV005301589]uncertain significance9135945032135945032Humanname
598232693CV3932605single nucleotide variantNM_016172.3(UBAC1):c.782C>A (p.Ala261Glu)not specified [RCV005295449]uncertain significance9135945122135945122Humanname
598232700CV3932607single nucleotide variantNM_016172.3(UBAC1):c.972G>C (p.Trp324Cys)not specified [RCV005295450]uncertain significance9135938352135938352Humanname
598264701CV3932608single nucleotide variantNM_016172.3(UBAC1):c.411C>G (p.Asp137Glu)not specified [RCV005301591]uncertain significance9135947828135947828Humanname
401891027CV2768929single nucleotide variantNM_016172.3(UBAC1):c.1187C>T (p.Ser396Phe)not specified [RCV004347030]uncertain significance9135933431135933431Humanname
405814233CV3341191single nucleotide variantNM_016172.3(UBAC1):c.1007T>G (p.Leu336Arg)not specified [RCV004484266]uncertain significance9135938317135938317Humanname
597803132CV3625717single nucleotide variantNM_016172.3(UBAC1):c.1013A>T (p.Lys338Met)not specified [RCV004881588]uncertain significance9135938311135938311Humanname
598264684CV3932603single nucleotide variantNM_016172.3(UBAC1):c.1033C>A (p.Pro345Thr)not specified [RCV005301588]uncertain significance9135938291135938291Humanname
598264694CV3932606single nucleotide variantNM_016172.3(UBAC1):c.1027G>A (p.Asp343Asn)not specified [RCV005301590]likely benign9135938297135938297Humanname
8633283CV88497deletionNM_016172.2(UBAC1):c.782delC (p.Ala261Glyfs)Malignant melanoma [RCV000068590]not provided9135945122135945122Humanname