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Pathways
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25 records found for search term Uqcrh
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
155795908CV1858511deletionNM_006004.4(UQCRH):c.55-527_243+48delMitochondrial complex 3 deficiency, nuclear type 11 [RCV002462821]pathogenic14630857346310363Human1name
405810517CV3345308single nucleotide variantNM_006004.4(UQCRH):c.16G>A (p.Glu6Lys)not specified [RCV004482268]uncertain significance14630378246303782Humanname
401734206CV2690511single nucleotide variantNM_006004.4(UQCRH):c.40G>C (p.Gly14Arg)not specified [RCV004304630]uncertain significance14630380646303806Humanname
329362828CV2449399single nucleotide variantNM_006004.4(UQCRH):c.155T>G (p.Leu52Arg)not specified [RCV004266559]uncertain significance14631022846310228Humanname
329357962CV2453829single nucleotide variantNM_006004.4(UQCRH):c.149T>C (p.Leu50Pro)not specified [RCV004271232]uncertain significance14631022246310222Humanname
329382610CV2465287single nucleotide variantNM_006004.4(UQCRH):c.252C>G (p.His84Gln)not specified [RCV004281085]uncertain significance14631656046316560Humanname
401927938CV2812782single nucleotide variantNM_006004.4(UQCRH):c.256C>A (p.Leu86Ile)not provided [RCV003406474]uncertain significance14631656446316564Humanname
407454905CV3489456single nucleotide variantNM_006004.4(UQCRH):c.167G>A (p.Arg56His)not specified [RCV004685293]uncertain significance14631024046310240Humanname
597721846CV3629253single nucleotide variantNM_006004.4(UQCRH):c.175T>A (p.Ser59Thr)not specified [RCV004887949]uncertain significance14631024846310248Humanname
598191785CV3936196single nucleotide variantNM_006004.4(UQCRH):c.144G>C (p.Glu48Asp)not specified [RCV005288412]uncertain significance14631021746310217Humanname
15155687CV706759single nucleotide variantNM_001089591.2(UQCRHL):c.171A>G (p.Val57=)not provided [RCV000968970]benign11580747915807479Humanname
155982011CV2233141single nucleotide variantNM_001089591.2(UQCRHL):c.29T>C (p.Leu10Pro)not specified [RCV004103755]uncertain significance11580762115807621Humanname
156115334CV2349290single nucleotide variantNM_001089591.2(UQCRHL):c.40G>A (p.Gly14Arg)not specified [RCV004199237]uncertain significance11580761015807610Humanname
401858043CV2774158single nucleotide variantNM_001089591.2(UQCRHL):c.85C>T (p.Pro29Ser)not specified [RCV004345748]uncertain significance11580756515807565Humanname
597721857CV3629254single nucleotide variantNM_001089591.2(UQCRHL):c.43G>T (p.Asp15Tyr)not specified [RCV004887950]uncertain significance11580760715807607Humanname
156095936CV2210338single nucleotide variantNM_001089591.2(UQCRHL):c.139C>T (p.Arg47Trp)not specified [RCV004089493]uncertain significance11580751115807511Humanname
156056980CV2243360single nucleotide variantNM_001089591.2(UQCRHL):c.134A>T (p.Lys45Met)not specified [RCV004112052]uncertain significance11580751615807516Humanname
401741289CV2680587single nucleotide variantNM_001089591.2(UQCRHL):c.143A>G (p.Glu48Gly)not specified [RCV004291213]uncertain significance11580750715807507Humanname
401761861CV2726937single nucleotide variantNM_001089591.2(UQCRHL):c.160G>C (p.Asp54His)not specified [RCV004323219]uncertain significance11580749015807490Humanname
401883331CV2757866single nucleotide variantNM_001089591.2(UQCRHL):c.116A>G (p.Gln39Arg)not specified [RCV004337008]uncertain significance11580753415807534Humanname
401892502CV2782096single nucleotide variantNM_001089591.2(UQCRHL):c.179G>A (p.Arg60Gln)not specified [RCV004359090]uncertain significance11580747115807471Humanname
405810515CV3345309single nucleotide variantNM_001089591.2(UQCRHL):c.140G>A (p.Arg47Gln)not specified [RCV004482269]uncertain significance11580751015807510Humanname
405810513CV3345310single nucleotide variantNM_001089591.2(UQCRHL):c.244G>A (p.Val82Met)not specified [RCV004482270]uncertain significance11580740615807406Humanname
598191791CV3936197single nucleotide variantNM_001089591.2(UQCRHL):c.154C>T (p.Leu52Phe)not specified [RCV005288413]uncertain significance11580749615807496Humanname
15155229CV696185single nucleotide variantNM_001089591.2(UQCRHL):c.158A>G (p.Tyr53Cys)not provided [RCV000946449]benign11580749215807492Humanname