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


46 records found for search term Slc4a8
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
596947098CV3547162single nucleotide variantNM_001039960.3(SLC4A8):c.2172+4932C>Anot provided [RCV004810970]likely benign125148013851480138Humanname
596945549CV3547868single nucleotide variantNM_001039960.3(SLC4A8):c.2172+4824T>Cnot provided [RCV004809199]likely benign125148003051480030Humanname
596946658CV3548486single nucleotide variantNM_001039960.3(SLC4A8):c.2172+4833G>Anot provided [RCV004810313]likely benign125148003951480039Humanname
596947532CV3549090single nucleotide variantNM_001039960.3(SLC4A8):c.2172+4815G>Anot provided [RCV004811414]likely benign125148002151480021Humanname
598129617CV3887034single nucleotide variantNM_001039960.3(SLC4A8):c.2172+4923C>Tnot provided [RCV005245094]likely benign125148012951480129Humanname
598129621CV3887038single nucleotide variantNM_001039960.3(SLC4A8):c.2172+4881C>Tnot provided [RCV005245098]likely benign125148008751480087Humanname
405728217CV3325686single nucleotide variantNM_001039960.3(SLC4A8):c.26C>T (p.Pro9Leu)not specified [RCV004463999]uncertain significance125142501351425013Humanname
407515299CV3480895single nucleotide variantNM_001039960.3(SLC4A8):c.55G>A (p.Asp19Asn)not specified [RCV004674870]uncertain significance125144071451440714Humanname
8634713CV89933single nucleotide variantNM_001039960.2(SLC4A8):c.711C>T (p.Ser237=)Malignant melanoma [RCV000070030]not provided125145748751457487Humanname
8654042CV130617single nucleotide variantNM_001039960.2(SLC4A8):c.1449G>T (p.Leu483=)Lung cancer [RCV000111104]uncertain significance125146971351469713Humanname
598245643CV3911408single nucleotide variantNM_001039960.3(SLC4A8):c.265G>T (p.Ala89Ser)not specified [RCV005277028]uncertain significance125145101051451010Humanname
156061407CV2320909single nucleotide variantNM_001039960.3(SLC4A8):c.922G>C (p.Val308Leu)not specified [RCV004172721]uncertain significance125146001751460017Humanname
329361011CV2463193single nucleotide variantNM_001039960.3(SLC4A8):c.769A>T (p.Thr257Ser)not specified [RCV004274973]uncertain significance125145856451458564Humanname
401763881CV2700246single nucleotide variantNM_001039960.3(SLC4A8):c.922G>A (p.Val308Met)not specified [RCV004310914]uncertain significance125146001751460017Humanname
401864609CV2760978single nucleotide variantNM_001039960.3(SLC4A8):c.521T>C (p.Ile174Thr)not specified [RCV004338653]uncertain significance125145364651453646Humanname
405728238CV3325688single nucleotide variantNM_001039960.3(SLC4A8):c.556A>G (p.Ser186Gly)not specified [RCV004464001]uncertain significance125145368151453681Humanname
405728246CV3325689single nucleotide variantNM_001039960.3(SLC4A8):c.707G>T (p.Arg236Leu)not specified [RCV004464002]uncertain significance125145748351457483Humanname
405728253CV3325690single nucleotide variantNM_001039960.3(SLC4A8):c.772G>A (p.Val258Met)not specified [RCV004464003]uncertain significance125145856751458567Humanname
407515302CV3480896single nucleotide variantNM_001039960.3(SLC4A8):c.559A>G (p.Ile187Val)not specified [RCV004674871]uncertain significance125145368451453684Humanname
407515305CV3480897single nucleotide variantNM_001039960.3(SLC4A8):c.905A>G (p.Asn302Ser)not specified [RCV004674872]uncertain significance125146000051460000Humanname
150529695CV1289387single nucleotide variantNM_001039960.3(SLC4A8):c.1460G>T (p.Cys487Phe)not provided [RCV001728138]uncertain significance125146972451469724Humanname
155973487CV2211039single nucleotide variantNM_001039960.3(SLC4A8):c.2204T>C (p.Phe735Ser)not specified [RCV004088224]uncertain significance125148581851485818Humanname
155921283CV2212217single nucleotide variantNM_001039960.3(SLC4A8):c.2241G>T (p.Leu747Phe)not specified [RCV004089103]uncertain significance125148585551485855Humanname
156229020CV2234938single nucleotide variantNM_001039960.3(SLC4A8):c.1903T>C (p.Tyr635His)not specified [RCV004113141]uncertain significance125147153151471531Humanname
155970585CV2262254single nucleotide variantNM_001039960.3(SLC4A8):c.2416G>A (p.Val806Ile)not specified [RCV004128462]uncertain significance125148882851488828Humanname
156341863CV2268322single nucleotide variantNM_001039960.3(SLC4A8):c.2020G>A (p.Glu674Lys)not specified [RCV004138609]uncertain significance125147505451475054Humanname
156048802CV2271751single nucleotide variantNM_001039960.3(SLC4A8):c.1348C>T (p.Arg450Trp)not specified [RCV004130595]uncertain significance125146371351463713Humanname
156140490CV2358326single nucleotide variantNM_001039960.3(SLC4A8):c.1942A>T (p.Thr648Ser)not specified [RCV004214140]uncertain significance125147437951474379Humanname
156181067CV2384048single nucleotide variantNM_001039960.3(SLC4A8):c.2141C>T (p.Thr714Met)not specified [RCV004225413]uncertain significance125147517551475175Humanname
401754405CV2685258single nucleotide variantNM_001039960.3(SLC4A8):c.1181C>T (p.Thr394Met)not specified [RCV004289804]uncertain significance125146238951462389Humanname
401770026CV2710826single nucleotide variantNM_001039960.3(SLC4A8):c.2156G>A (p.Arg719His)not specified [RCV004308749]uncertain significance125147519051475190Humanname
401865528CV2755548single nucleotide variantNM_001039960.3(SLC4A8):c.1508C>T (p.Ala503Val)not specified [RCV004340128]uncertain significance125146977251469772Humanname
401884049CV2785843single nucleotide variantNM_001039960.3(SLC4A8):c.1751C>T (p.Ser584Phe)not specified [RCV004365081]uncertain significance125147137951471379Humanname
405728195CV3325683single nucleotide variantNM_001039960.3(SLC4A8):c.1520G>A (p.Arg507His)not specified [RCV004463996]uncertain significance125146978451469784Humanname
405728204CV3325684single nucleotide variantNM_001039960.3(SLC4A8):c.1963C>A (p.His655Asn)not specified [RCV004463997]uncertain significance125147440051474400Humanname
405728209CV3325685single nucleotide variantNM_001039960.3(SLC4A8):c.2314A>G (p.Ile772Val)not specified [RCV004463998]uncertain significance125148872651488726Humanname
407515296CV3480894single nucleotide variantNM_001039960.3(SLC4A8):c.1972G>A (p.Val658Met)not specified [RCV004674869]uncertain significance125147440951474409Humanname
407515310CV3480899single nucleotide variantNM_001039960.3(SLC4A8):c.1988A>G (p.His663Arg)not specified [RCV004674874]uncertain significance125147442551474425Humanname
597766886CV3596911single nucleotide variantNM_001039960.3(SLC4A8):c.2543T>A (p.Val848Asp)not specified [RCV004870707]uncertain significance125148979451489794Humanname
598245636CV3911407single nucleotide variantNM_001039960.3(SLC4A8):c.1639A>G (p.Ile547Val)not specified [RCV005277027]uncertain significance125147050651470506Humanname
598245652CV3911409single nucleotide variantNM_001039960.3(SLC4A8):c.1673C>T (p.Ser558Leu)not specified [RCV005277029]uncertain significance125147130151471301Humanname
8627299CV82443single nucleotide variantNM_001039960.2(SLC4A8):c.1033G>A (p.Gly345Ser)Malignant melanoma [RCV000062522]not provided125146122351461223Humanname
8634714CV89934single nucleotide variantNM_001039960.2(SLC4A8):c.1490G>A (p.Gly497Glu)Malignant melanoma [RCV000070031]not provided125146975451469754Humanname
156002580CV2257973single nucleotide variantNM_001039960.3(SLC4A8):c.3073G>A (p.Glu1025Lys)not specified [RCV004129783]uncertain significance125149711651497116Humanname
155989380CV2371936single nucleotide variantNM_001039960.3(SLC4A8):c.3104T>C (p.Ile1035Thr)not specified [RCV004221618]uncertain significance125150405151504051Humanname
405728230CV3325687single nucleotide variantNM_001039960.3(SLC4A8):c.3083A>G (p.Glu1028Gly)not specified [RCV004464000]uncertain significance125150403051504030Humanname