Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Pathways
Variants search result for All species
(View Results for all Objects and Ontologies)


14 records found for search term Mrpl48
Refine Term:
Sort By:
           Export CSV TAB Print

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
155932990CV2228778single nucleotide variantNM_016055.6(MRPL48):c.83C>T (p.Thr28Ile)not specified [RCV004095030]uncertain significance117380832173808321Humanname
407474606CV3450373single nucleotide variantNM_016055.6(MRPL48):c.98C>T (p.Pro33Leu)not specified [RCV004638197]uncertain significance117380833673808336Humanname
155909275CV2359657single nucleotide variantNM_016055.6(MRPL48):c.136C>T (p.Arg46Trp)not specified [RCV004210484]uncertain significance117382573173825731Humanname
156270860CV2398746single nucleotide variantNM_016055.6(MRPL48):c.137G>A (p.Arg46Gln)not specified [RCV004240084]uncertain significance117382573273825732Humanname
405757864CV3367803single nucleotide variantNM_016055.6(MRPL48):c.164G>A (p.Gly55Asp)not specified [RCV004500123]uncertain significance117382575973825759Humanname
407474603CV3450372single nucleotide variantNM_016055.6(MRPL48):c.130A>T (p.Ile44Phe)not specified [RCV004638196]uncertain significance117382572573825725Humanname
597634327CV3557318single nucleotide variantNM_016055.6(MRPL48):c.235G>A (p.Ala79Thr)not specified [RCV004830910]uncertain significance117384484073844840Humanname
598213102CV3993444single nucleotide variantNM_016055.6(MRPL48):c.167T>C (p.Ile56Thr)not specified [RCV005378285]uncertain significance117382576273825762Humanname
598179019CV3993445single nucleotide variantNM_016055.6(MRPL48):c.292T>C (p.Tyr98His)not specified [RCV005371861]uncertain significance117384489773844897Humanname
156160415CV2398188single nucleotide variantNM_016055.6(MRPL48):c.481G>A (p.Gly161Ser)not specified [RCV004241760]uncertain significance117386317873863178Humanname
401738741CV2676362single nucleotide variantNM_016055.6(MRPL48):c.544G>A (p.Val182Ile)not specified [RCV004286388]uncertain significance117386324173863241Humanname
401770806CV2685913single nucleotide variantNM_016055.6(MRPL48):c.314G>A (p.Ser105Asn)not specified [RCV004294888]uncertain significance117384491973844919Humanname
598213097CV3993442single nucleotide variantNM_016055.6(MRPL48):c.386C>T (p.Thr129Ile)not specified [RCV005378284]uncertain significance117385992173859921Humanname
598179011CV3993443single nucleotide variantNM_016055.6(MRPL48):c.415G>A (p.Asp139Asn)not specified [RCV005371860]uncertain significance117385995073859950Humanname