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36 records found for search term Cope
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
401773135CV2716467single nucleotide variantNM_007263.4(COPE):c.5C>G (p.Ala2Gly)not specified [RCV004325774]uncertain significance191891934418919344Humanname
597648686CV3654158single nucleotide variantNM_007263.4(COPE):c.8C>T (p.Pro3Leu)not specified [RCV004910278]uncertain significance191891934118919341Humanname
329402913CV2462013single nucleotide variantNM_007263.4(COPE):c.26C>T (p.Ala9Val)not specified [RCV004272194]uncertain significance191891932318919323Humanname
597648669CV3654155single nucleotide variantNM_007263.4(COPE):c.25G>T (p.Ala9Ser)not specified [RCV004910276]uncertain significance191891932418919324Humanname
598233935CV3948872single nucleotide variantNM_007263.4(COPE):c.23C>T (p.Pro8Leu)not specified [RCV005320006]uncertain significance191891932618919326Humanname
407456591CV3423322single nucleotide variantNM_007263.4(COPE):c.73G>A (p.Ala25Thr)not specified [RCV004610786]uncertain significance191891927618919276Humanname
598233874CV3948862single nucleotide variantNM_007263.4(COPE):c.46G>A (p.Val16Ile)not specified [RCV005319997]uncertain significance191891930318919303Humanname
155969849CV2241224single nucleotide variantNM_007263.4(COPE):c.176C>T (p.Ala59Val)not specified [RCV004102385]uncertain significance191891299718912997Humanname
156110888CV2387701single nucleotide variantNM_007263.4(COPE):c.269A>G (p.Tyr90Cys)not specified [RCV004234242]uncertain significance191891099218910992Humanname
329355307CV2449314single nucleotide variantNM_007263.4(COPE):c.160G>A (p.Val54Ile)not specified [RCV004257444]uncertain significance191891301318913013Humanname
401780277CV2673951single nucleotide variantNM_007263.4(COPE):c.212A>G (p.Asp71Gly)not specified [RCV004293323]uncertain significance191891104918911049Humanname
401754494CV2722717single nucleotide variantNM_007263.4(COPE):c.253C>T (p.Arg85Cys)not specified [RCV004325153]uncertain significance191891100818911008Humanname
405684333CV3235523single nucleotide variantNM_007263.4(COPE):c.148G>T (p.Val50Leu)not specified [RCV004372037]uncertain significance191891302518913025Humanname
407456594CV3423323single nucleotide variantNM_007263.4(COPE):c.230C>T (p.Ser77Leu)not specified [RCV004610787]uncertain significance191891103118911031Humanname
597648693CV3654159single nucleotide variantNM_007263.4(COPE):c.205G>T (p.Val69Phe)not specified [RCV004910279]uncertain significance191891105618911056Humanname
156162795CV2272718single nucleotide variantNM_007263.4(COPE):c.455C>A (p.Thr152Lys)not specified [RCV004135371]uncertain significance191890561818905618Humanname
156061993CV2277110single nucleotide variantNM_007263.4(COPE):c.553G>A (p.Ala185Thr)not specified [RCV004142760]uncertain significance191890479718904797Humanname
156354441CV2324276single nucleotide variantNM_007263.4(COPE):c.496C>G (p.Arg166Gly)not specified [RCV004177004]uncertain significance191890557718905577Humanname
156248354CV2393939single nucleotide variantNM_007263.4(COPE):c.706G>A (p.Glu236Lys)not specified [RCV004236170]uncertain significance191890329718903297Humanname
329382869CV2424580single nucleotide variantNM_007263.4(COPE):c.891T>A (p.Phe297Leu)not specified [RCV004254079]uncertain significance191889971518899715Humanname
401870868CV2762966single nucleotide variantNM_007263.4(COPE):c.370G>A (p.Ala124Thr)not specified [RCV004342714]uncertain significance191890703318907033Humanname
401891646CV2779273single nucleotide variantNM_007263.4(COPE):c.388G>C (p.Asp130His)not specified [RCV004350952]uncertain significance191890701518907015Humanname
405684337CV3235524single nucleotide variantNM_007263.4(COPE):c.301G>A (p.Val101Met)not specified [RCV004372038]uncertain significance191890710218907102Humanname
405684342CV3235525single nucleotide variantNM_007263.4(COPE):c.469C>G (p.Leu157Val)not specified [RCV004372039]uncertain significance191890560418905604Humanname
405684346CV3235526single nucleotide variantNM_007263.4(COPE):c.844A>G (p.Arg282Gly)not specified [RCV004372040]uncertain significance191889990818899908Humanname
407456588CV3423321single nucleotide variantNM_007263.4(COPE):c.692G>A (p.Arg231His)not specified [RCV004610785]uncertain significance191890331118903311Humanname
597648702CV3654160single nucleotide variantNM_007263.4(COPE):c.416C>T (p.Ala139Val)not specified [RCV004910280]uncertain significance191890698718906987Humanname
598264880CV3948863single nucleotide variantNM_007263.4(COPE):c.496C>T (p.Arg166Trp)not specified [RCV005326220]uncertain significance191890557718905577Humanname
598233882CV3948864single nucleotide variantNM_007263.4(COPE):c.485T>C (p.Leu162Pro)not specified [RCV005319998]uncertain significance191890558818905588Humanname
598233888CV3948865single nucleotide variantNM_007263.4(COPE):c.512G>T (p.Arg171Ile)not specified [RCV005319999]uncertain significance191890483818904838Humanname
598233902CV3948867single nucleotide variantNM_007263.4(COPE):c.317G>A (p.Arg106Gln)not specified [RCV005320001]uncertain significance191890708618907086Humanname
598233908CV3948868single nucleotide variantNM_007263.4(COPE):c.361C>T (p.Leu121Phe)not specified [RCV005320002]uncertain significance191890704218907042Humanname
598233914CV3948869single nucleotide variantNM_007263.4(COPE):c.646C>A (p.Leu216Met)not specified [RCV005320003]uncertain significance191890335718903357Humanname
598233920CV3948870single nucleotide variantNM_007263.4(COPE):c.908A>G (p.Gln303Arg)not specified [RCV005320004]uncertain significance191889969818899698Humanname
598233927CV3948871single nucleotide variantNM_007263.4(COPE):c.340G>T (p.Val114Leu)not specified [RCV005320005]uncertain significance191890706318907063Humanname
8564745CV30209single nucleotide variantNM_000518.4(HBB):c.142G>A (p.Asp48Asn)HEMOGLOBIN G (COPENHAGEN) [RCV000016342]|not provided [RCV001284628]|not specified [RCV004526597]likely benign|conflicting interpretations of pathogenicity|uncertain significance|other1152267505226750Humantrait