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)


13 records found for search term Churc1
Refine Term:
Sort By:
           Export CSV TAB Print

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
155794803CV1859879single nucleotide variantNM_001202559.1(CHURC1-FNTB):c.465+8C>Anot specified [RCV002466123]benign146501239765012397Humanname
401795735CV2740214single nucleotide variantNM_001202559.1(CHURC1-FNTB):c.789-16G>Anot specified [RCV003320509]likely benign146503259465032594Humanname
155974559CV2269970single nucleotide variantNM_145165.3(CHURC1):c.28G>A (p.Glu10Lys)not specified [RCV004128965]uncertain significance146491444264914442Humanname
155917982CV2275145single nucleotide variantNM_145165.3(CHURC1):c.35C>T (p.Ser12Leu)not specified [RCV004136944]uncertain significance146491444964914449Humanname
15119635CV739283single nucleotide variantNM_001386928.1(CHURC1):c.60T>A (p.Asn20Lys)not provided [RCV000895760]likely benign146492401164924011Humanname
155920885CV2276212single nucleotide variantNM_001386928.1(CHURC1):c.258G>A (p.Met86Ile)not specified [RCV004142161]uncertain significance146493214964932149Humanname
155901810CV2345875single nucleotide variantNM_001386928.1(CHURC1):c.295A>G (p.Ser99Gly)not specified [RCV004198918]uncertain significance146493218664932186Humanname
155962476CV2388244single nucleotide variantNM_001386928.1(CHURC1):c.274G>A (p.Gly92Ser)not specified [RCV004234702]uncertain significance146493216564932165Humanname
401751418CV2708612single nucleotide variantNM_001386928.1(CHURC1):c.283G>A (p.Glu95Lys)not specified [RCV004307599]uncertain significance146493217464932174Humanname
405673094CV3293643single nucleotide variantNM_001386928.1(CHURC1):c.296G>C (p.Ser99Thr)not specified [RCV004441719]uncertain significance146493218764932187Humanname
407477946CV3422988single nucleotide variantNM_001386928.1(CHURC1):c.250T>C (p.Tyr84His)not specified [RCV004610617]uncertain significance146493214164932141Humanname
15130394CV714206single nucleotide variantNM_001386928.1(CHURC1):c.170A>G (p.Tyr57Cys)not provided [RCV000964428]benign|likely benign146492412164924121Humanname
401720381CV2673303single nucleotide variantNM_001386928.1(CHURC1):c.317G>A (p.Arg106Gln)not specified [RCV004288291]uncertain significance146493220864932208Humanname