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


60 records found for search term Krt80
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
329365343CV2444810single nucleotide variantNM_182507.3(KRT80):c.26G>A (p.Gly9Asp)not specified [RCV004259054]uncertain significance125219187752191877Humanname
401898888CV2792088single nucleotide variantNM_182507.3(KRT80):c.13T>C (p.Ser5Pro)not specified [RCV004361317]uncertain significance125219189052191890Humanname
156224567CV2355669single nucleotide variantNM_182507.3(KRT80):c.73C>T (p.Arg25Trp)not specified [RCV004198625]uncertain significance125219183052191830Humanname
401892939CV2758273single nucleotide variantNM_182507.3(KRT80):c.74G>A (p.Arg25Gln)KRT80-related disorder [RCV003901019]|not specified [RCV004341630]likely benign|uncertain significance125219182952191829Humanname , trait , alternate_id
405653346CV3269491single nucleotide variantNM_182507.3(KRT80):c.35G>A (p.Ser12Asn)not specified [RCV004414555]uncertain significance125219186852191868Humanname
156064077CV2200056single nucleotide variantNM_182507.3(KRT80):c.143G>A (p.Gly48Asp)not specified [RCV004069639]uncertain significance125219176052191760Humanname
156387289CV2221466single nucleotide variantNM_182507.3(KRT80):c.232C>A (p.Gln78Lys)not specified [RCV004096748]uncertain significance125219167152191671Humanname
401757387CV2675274single nucleotide variantNM_182507.3(KRT80):c.134G>C (p.Ser45Thr)not specified [RCV004290041]uncertain significance125219176952191769Humanname
401750141CV2701019single nucleotide variantNM_182507.3(KRT80):c.273T>G (p.Asn91Lys)not specified [RCV004309626]uncertain significance125219163052191630Humanname
401884611CV2761925single nucleotide variantNM_182507.3(KRT80):c.233A>T (p.Gln78Leu)not specified [RCV004339554]uncertain significance125219167052191670Humanname
407500427CV3445659single nucleotide variantNM_182507.3(KRT80):c.252G>T (p.Lys84Asn)not specified [RCV004644597]uncertain significance125219165152191651Humanname
598172655CV3980573single nucleotide variantNM_182507.3(KRT80):c.116C>T (p.Pro39Leu)not specified [RCV005370807]likely benign125219178752191787Humanname
156369023CV2263248single nucleotide variantNM_182507.3(KRT80):c.449G>A (p.Arg150Gln)not specified [RCV004131747]uncertain significance125218543952185439Humanname
155963035CV2282694single nucleotide variantNM_182507.3(KRT80):c.898G>A (p.Ala300Thr)not specified [RCV004141562]uncertain significance125217309752173097Humanname
156296635CV2297595single nucleotide variantNM_182507.3(KRT80):c.716G>A (p.Gly239Asp)not specified [RCV004155294]uncertain significance125217371552173715Humanname
156187924CV2302823single nucleotide variantNM_182507.3(KRT80):c.383T>C (p.Leu128Pro)not specified [RCV004162727]uncertain significance125218550552185505Humanname
156209189CV2304436single nucleotide variantNM_182507.3(KRT80):c.553T>C (p.Phe185Leu)not specified [RCV004164533]uncertain significance125218092052180920Humanname
155920539CV2343366single nucleotide variantNM_182507.3(KRT80):c.379G>A (p.Asp127Asn)not specified [RCV004194980]uncertain significance125218550952185509Humanname
156341078CV2348157single nucleotide variantNM_182507.3(KRT80):c.314A>T (p.Glu105Val)not specified [RCV004197829]uncertain significance125218557452185574Humanname
155921698CV2350711single nucleotide variantNM_182507.3(KRT80):c.320G>A (p.Arg107His)not specified [RCV004207057]uncertain significance125218556852185568Humanname
156254697CV2358848single nucleotide variantNM_182507.3(KRT80):c.596G>A (p.Arg199Gln)not specified [RCV004212195]uncertain significance125218058352180583Humanname
155930361CV2366736single nucleotide variantNM_182507.3(KRT80):c.886C>T (p.Arg296Cys)not specified [RCV004210735]uncertain significance125217310952173109Humanname
156045662CV2397268single nucleotide variantNM_182507.3(KRT80):c.891C>A (p.Ser297Arg)not specified [RCV004238801]uncertain significance125217310452173104Humanname
329382500CV2424411single nucleotide variantNM_182507.3(KRT80):c.524T>C (p.Ile175Thr)not specified [RCV004252307]uncertain significance125218094952180949Humanname
329377910CV2460830single nucleotide variantNM_182507.3(KRT80):c.853T>A (p.Ser285Thr)not specified [RCV004271143]uncertain significance125217314252173142Humanname
401743193CV2677790single nucleotide variantNM_182507.3(KRT80):c.431G>A (p.Arg144His)not specified [RCV004291860]uncertain significance125218545752185457Humanname
401873327CV2761427single nucleotide variantNM_182507.3(KRT80):c.486G>T (p.Glu162Asp)not specified [RCV004334606]uncertain significance125218540252185402Humanname
405653348CV3269492single nucleotide variantNM_182507.3(KRT80):c.607G>C (p.Glu203Gln)not specified [RCV004414556]uncertain significance125218057252180572Humanname
405653350CV3269493single nucleotide variantNM_182507.3(KRT80):c.754G>A (p.Val252Met)not specified [RCV004414557]uncertain significance125217367752173677Humanname
405653351CV3269494single nucleotide variantNM_182507.3(KRT80):c.793C>T (p.Arg265Cys)not specified [RCV004414558]uncertain significance125217363852173638Humanname
405653353CV3269495single nucleotide variantNM_182507.3(KRT80):c.894G>C (p.Glu298Asp)not specified [RCV004414559]uncertain significance125217310152173101Humanname
405653355CV3269496single nucleotide variantNM_182507.3(KRT80):c.913C>T (p.Arg305Cys)not specified [RCV004414560]uncertain significance125217308252173082Humanname
407500417CV3445656single nucleotide variantNM_182507.3(KRT80):c.728G>A (p.Arg243His)not specified [RCV004644594]uncertain significance125217370352173703Humanname
407500420CV3445657single nucleotide variantNM_182507.3(KRT80):c.850C>A (p.Arg284Ser)not specified [RCV004644595]uncertain significance125217314552173145Humanname
407500424CV3445658single nucleotide variantNM_182507.3(KRT80):c.788C>T (p.Ala263Val)not specified [RCV004644596]uncertain significance125217364352173643Humanname
407500431CV3445660single nucleotide variantNM_182507.3(KRT80):c.929G>A (p.Arg310Gln)not specified [RCV004644598]uncertain significance125217306652173066Humanname
597624678CV3695715single nucleotide variantNM_182507.3(KRT80):c.704C>T (p.Ser235Leu)not specified [RCV004937699]uncertain significance125217372752173727Humanname
597624681CV3695718single nucleotide variantNM_182507.3(KRT80):c.715G>A (p.Gly239Ser)not specified [RCV004937702]uncertain significance125217371652173716Humanname
597624682CV3695719single nucleotide variantNM_182507.3(KRT80):c.502C>G (p.Arg168Gly)not specified [RCV004937703]uncertain significance125218538652185386Humanname
597624684CV3695721single nucleotide variantNM_182507.3(KRT80):c.746G>A (p.Ser249Asn)not specified [RCV004937705]uncertain significance125217368552173685Humanname
598222111CV3980572single nucleotide variantNM_182507.3(KRT80):c.811G>A (p.Glu271Lys)not specified [RCV005360932]uncertain significance125217362052173620Humanname
598222117CV3980574single nucleotide variantNM_182507.3(KRT80):c.599C>A (p.Thr200Asn)not specified [RCV005360933]uncertain significance125218058052180580Humanname
598195933CV3980575single nucleotide variantNM_182507.3(KRT80):c.796A>G (p.Ser266Gly)not specified [RCV005355090]uncertain significance125217363552173635Humanname
15125470CV713576single nucleotide variantNM_182507.3(KRT80):c.727C>T (p.Arg243Cys)not provided [RCV000963584]benign125217370452173704Humanname
15147072CV713577single nucleotide variantNM_182507.3(KRT80):c.712G>A (p.Val238Ile)not provided [RCV000967268]benign125217371952173719Humanname
15193938CV725146single nucleotide variantNM_182507.3(KRT80):c.430C>T (p.Arg144Cys)not provided [RCV000889082]benign125218545852185458Humanname
156398968CV2194901single nucleotide variantNM_182507.3(KRT80):c.1210G>A (p.Ala404Thr)not specified [RCV004075431]uncertain significance125217168252171682Humanname
156252195CV2196692single nucleotide variantNM_182507.3(KRT80):c.1081C>T (p.Arg361Trp)not specified [RCV004073951]uncertain significance125217229552172295Humanname
156381969CV2212510single nucleotide variantNM_182507.3(KRT80):c.1036G>T (p.Ala346Ser)not specified [RCV004091394]uncertain significance125217234052172340Humanname
156011332CV2291133single nucleotide variantNM_182507.3(KRT80):c.1331T>G (p.Phe444Cys)not specified [RCV004151656]uncertain significance125217142652171426Humanname
156167065CV2345250single nucleotide variantNM_182507.3(KRT80):c.1330T>G (p.Phe444Val)not specified [RCV004195988]uncertain significance125217142752171427Humanname
156337056CV2360870single nucleotide variantNM_182507.3(KRT80):c.1182G>A (p.Met394Ile)not specified [RCV004213641]uncertain significance125217171052171710Humanname
401760302CV2694995single nucleotide variantNM_182507.3(KRT80):c.1235C>T (p.Ala412Val)not specified [RCV004301371]uncertain significance125217152252171522Humanname
401876301CV2774453single nucleotide variantNM_182507.3(KRT80):c.1082G>A (p.Arg361Gln)not specified [RCV004347788]uncertain significance125217229452172294Humanname
405653344CV3269490single nucleotide variantNM_182507.3(KRT80):c.1297G>A (p.Val433Met)not specified [RCV004414554]uncertain significance125217146052171460Humanname
597624679CV3695716single nucleotide variantNM_182507.3(KRT80):c.1337A>G (p.Gln446Arg)not specified [RCV004937700]uncertain significance125217142052171420Humanname
597624680CV3695717single nucleotide variantNM_182507.3(KRT80):c.1052C>T (p.Ala351Val)not specified [RCV004937701]uncertain significance125217232452172324Humanname
597624683CV3695720single nucleotide variantNM_182507.3(KRT80):c.1317G>C (p.Met439Ile)not specified [RCV004937704]uncertain significance125217144052171440Humanname
597624685CV3695722single nucleotide variantNM_182507.3(KRT80):c.1318T>A (p.Ser440Thr)not specified [RCV004937706]uncertain significance125217143952171439Humanname
598222125CV3980576single nucleotide variantNM_182507.3(KRT80):c.1175G>A (p.Gly392Asp)not specified [RCV005360934]uncertain significance125217220152172201Humanname