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Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


9 records found for search term Ndufb7
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
42723382CV985484single nucleotide variantNM_004146.6(NDUFB7):c.113-10C>GMitochondrial complex I deficiency, nuclear type 39 [RCV002447260]|Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes [RCV001293326]pathogenic|likely pathogenic191456694314566943Human2name
156340765CV2368316single nucleotide variantNM_004146.6(NDUFB7):c.13C>G (p.Leu5Val)not specified [RCV004219096]uncertain significance191457198814571988Humanname
156401787CV2217751single nucleotide variantNM_004146.6(NDUFB7):c.55C>T (p.Pro19Ser)not specified [RCV004083931]uncertain significance191457194614571946Humanname
401719039CV2704929single nucleotide variantNM_004146.6(NDUFB7):c.295A>C (p.Met99Leu)not specified [RCV004307500]uncertain significance191456625214566252Humanname
405801361CV3348519single nucleotide variantNM_004146.6(NDUFB7):c.292C>G (p.Arg98Gly)not specified [RCV004477782]uncertain significance191456625514566255Humanname
597669476CV3555622single nucleotide variantNM_004146.6(NDUFB7):c.140T>C (p.Met47Thr)not specified [RCV004829564]uncertain significance191456690614566906Humanname
598253899CV4004101single nucleotide variantNM_004146.6(NDUFB7):c.277C>T (p.Arg93Cys)not specified [RCV005385419]uncertain significance191456676914566769Humanname
401724197CV2738023single nucleotide variantNM_004146.6(NDUFB7):c.311G>A (p.Arg104Gln)Mitochondrial complex I deficiency, nuclear type 39 [RCV003315195]uncertain significance191456623614566236Human1name
597669467CV3555621single nucleotide variantNM_004146.6(NDUFB7):c.395A>G (p.Asp132Gly)not specified [RCV004829563]uncertain significance191456615214566152Humanname