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)


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

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15124912CV715007single nucleotide variantNM_016951.4(CKLF):c.435G>A (p.Val145=)not provided [RCV000963492]benign166656598766565987Humanname
155931259CV2221000single nucleotide variantNM_016951.4(CKLF):c.286G>A (p.Val96Met)not specified [RCV004092685]uncertain significance166656317066563170Humanname
156364116CV2262775single nucleotide variantNM_016951.4(CKLF):c.338T>C (p.Phe113Ser)not specified [RCV004130946]uncertain significance166656589066565890Humanname
155904292CV2385459single nucleotide variantNM_016951.4(CKLF):c.308C>A (p.Thr103Asn)not specified [RCV004233110]uncertain significance166656319266563192Humanname
405684387CV3306375single nucleotide variantNM_016951.4(CKLF):c.372C>G (p.Asp124Glu)not specified [RCV004444091]uncertain significance166656592466565924Humanname
407478093CV3419243single nucleotide variantNM_016951.4(CKLF):c.371A>G (p.Asp124Gly)not specified [RCV004612778]uncertain significance166656592366565923Humanname
597781818CV3660063single nucleotide variantNM_016951.4(CKLF):c.373G>A (p.Gly125Arg)not specified [RCV004899847]uncertain significance166656592566565925Humanname
597781822CV3660064single nucleotide variantNM_016951.4(CKLF):c.388C>G (p.Arg130Gly)not specified [RCV004899848]uncertain significance166656594066565940Humanname
598231907CV3948274single nucleotide variantNM_016951.4(CKLF):c.313A>G (p.Thr105Ala)not specified [RCV005319646]uncertain significance166656319766563197Humanname
405684392CV3306376single nucleotide variantNM_001204099.2(CKLF-CMTM1):c.13C>A (p.Gln5Lys)not specified [RCV004444092]likely benign166655272866552728Humanname
407478099CV3419244single nucleotide variantNM_001204099.2(CKLF-CMTM1):c.166A>G (p.Ile56Val)not specified [RCV004612779]uncertain significance166655827766558277Humanname
8570219CV47575indelNM_001040138.2(CKLF):c.-7863_-2035delins[AC010542.7:g.65062_65110]Mitochondrial DNA depletion syndrome, myopathic form [RCV000032231]pathogenic166654485366550681Humanname