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122 records found for search term Itgav
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405271700CV3202918single nucleotide variantNM_002210.5(ITGAV):c.*2T>CITGAV-related disorder [RCV003913978]likely benign2186677294186677294Humanname , trait , alternate_id
405277612CV3195932single nucleotide variantNM_002210.5(ITGAV):c.802+8G>AITGAV-related disorder [RCV003904456]likely benign2186637117186637117Humanname , trait , alternate_id
407455669CV3415690single nucleotide variantNM_002210.5(ITGAV):c.903+1G>CSusceptibility to severe COVID-19 [RCV004598567]likely pathogenic2186638466186638466Humanname
15144431CV778882single nucleotide variantNM_002210.5(ITGAV):c.956+8T>Anot provided [RCV000966833]benign2186640975186640975Humanname
405855060CV2831330single nucleotide variantNM_002210.5(ITGAV):c.2247-1G>AITGAV deficiency [RCV004555916]likely pathogenic2186667149186667149Humanname , trait
405276638CV3193431duplicationNM_002210.5(ITGAV):c.2247-10dupITGAV-related disorder [RCV003974599]likely benign2186667129186667130Humanname , trait , alternate_id
15131154CV758993single nucleotide variantNM_002210.5(ITGAV):c.1719+10A>Gnot provided [RCV000920127]likely benign2186656411186656411Humanname
405271081CV3209232microsatelliteNM_002210.5(ITGAV):c.803-22TTTG[5]ITGAV-related disorder [RCV003949595]likely benign2186638254186638255Humanname , trait , alternate_id
405852271CV2831928deletionNM_002210.5(ITGAV):c.1564+3_1564+6delITGAV deficiency [RCV004556873]likely pathogenic2186654708186654711Humanname , trait
597793613CV3686936single nucleotide variantNM_002210.5(ITGAV):c.17G>A (p.Arg6Gln)not specified [RCV004934241]uncertain significance2186590355186590355Humanname
155924354CV2248753single nucleotide variantNM_002210.5(ITGAV):c.77C>T (p.Pro26Leu)not specified [RCV004121909]uncertain significance2186590415186590415Humanname
156031909CV2259436single nucleotide variantNM_002210.5(ITGAV):c.58C>T (p.Leu20Phe)not specified [RCV004122650]uncertain significance2186590396186590396Humanname
405805900CV3268056single nucleotide variantNM_002210.5(ITGAV):c.67C>T (p.Leu23Phe)not specified [RCV004405761]uncertain significance2186590405186590405Humanname
407458880CV3451682single nucleotide variantNM_002210.5(ITGAV):c.29G>T (p.Arg10Leu)not specified [RCV004633442]uncertain significance2186590367186590367Humanname
408383578CV3506838single nucleotide variantNM_002210.5(ITGAV):c.666A>G (p.Val222=)ITGAV-related disorder [RCV004730727]likely benign2186636116186636116Humanname , trait , alternate_id
597793610CV3686935single nucleotide variantNM_002210.5(ITGAV):c.73C>G (p.Leu25Val)not specified [RCV004934240]uncertain significance2186590411186590411Humanname
15161404CV707892single nucleotide variantNM_002210.5(ITGAV):c.441G>A (p.Glu147=)not provided [RCV000970083]benign2186625505186625505Humanname
15161413CV707893single nucleotide variantNM_002210.5(ITGAV):c.675C>T (p.Tyr225=)not provided [RCV000970084]benign2186636125186636125Humanname
156076772CV2230236single nucleotide variantNM_002210.5(ITGAV):c.168C>G (p.Phe56Leu)not specified [RCV004099857]uncertain significance2186590506186590506Humanname
156293938CV2336622single nucleotide variantNM_002210.5(ITGAV):c.102C>G (p.Asp34Glu)not specified [RCV004196867]uncertain significance2186590440186590440Humanname
156259392CV2395462single nucleotide variantNM_002210.5(ITGAV):c.232C>G (p.Pro78Ala)not specified [RCV004241328]uncertain significance2186602067186602067Humanname
329359070CV2425496single nucleotide variantNM_002210.5(ITGAV):c.287G>A (p.Arg96Gln)not specified [RCV004252939]uncertain significance2186602122186602122Humanname
405270458CV3187726single nucleotide variantNM_002210.5(ITGAV):c.224C>T (p.Thr75Ile)not provided [RCV003887810]uncertain significance2186602059186602059Humanname
405288570CV3193676single nucleotide variantNM_002210.5(ITGAV):c.1302T>C (p.Phe434=)ITGAV-related disorder [RCV003982682]likely benign2186646828186646828Humanname , trait , alternate_id
405277731CV3196058single nucleotide variantNM_002210.5(ITGAV):c.1242C>T (p.Asn414=)ITGAV-related disorder [RCV003904578]likely benign2186646768186646768Humanname , trait , alternate_id
405283933CV3213433single nucleotide variantNM_002210.5(ITGAV):c.1053A>G (p.Arg351=)ITGAV-related disorder [RCV003922020]likely benign2186641482186641482Humanname , trait , alternate_id
405805880CV3268045single nucleotide variantNM_002210.5(ITGAV):c.190A>G (p.Met64Val)not specified [RCV004405750]uncertain significance2186602025186602025Humanname
597793593CV3686929single nucleotide variantNM_002210.5(ITGAV):c.187C>T (p.Arg63Trp)not specified [RCV004934234]uncertain significance2186602022186602022Humanname
597793616CV3686937single nucleotide variantNM_002210.5(ITGAV):c.286C>T (p.Arg96Trp)not specified [RCV004934242]uncertain significance2186602121186602121Humanname
15183588CV697204single nucleotide variantNM_002210.5(ITGAV):c.1710G>A (p.Ala570=)ITGAV-related disorder [RCV003978232]|not provided [RCV000952500]benign|likely benign2186656392186656392Humanname , trait , alternate_id
15144438CV707894single nucleotide variantNM_002210.5(ITGAV):c.2964G>A (p.Ala988=)not provided [RCV000966834]benign2186676848186676848Humanname
156400490CV2199215single nucleotide variantNM_002210.5(ITGAV):c.722G>A (p.Arg241Gln)not specified [RCV004080599]uncertain significance2186636172186636172Humanname
156381271CV2218693single nucleotide variantNM_002210.5(ITGAV):c.773T>C (p.Val258Ala)not specified [RCV004090942]uncertain significance2186637080186637080Humanname
155915448CV2274183single nucleotide variantNM_002210.5(ITGAV):c.308A>G (p.Asp103Gly)not specified [RCV004134815]uncertain significance2186602143186602143Humanname
156202329CV2313211single nucleotide variantNM_002210.5(ITGAV):c.455G>A (p.Arg152Gln)not specified [RCV004161466]uncertain significance2186625519186625519Humanname
329401946CV2458011single nucleotide variantNM_002210.5(ITGAV):c.985C>A (p.Leu329Ile)not specified [RCV004271582]uncertain significance2186641414186641414Humanname
401740767CV2681528single nucleotide variantNM_002210.5(ITGAV):c.728C>T (p.Ala243Val)not specified [RCV004292060]uncertain significance2186636178186636178Humanname
401856867CV2755123single nucleotide variantNM_002210.5(ITGAV):c.298A>G (p.Ile100Val)not specified [RCV004335273]uncertain significance2186602133186602133Humanname
401882276CV2793431single nucleotide variantNM_002210.5(ITGAV):c.721C>T (p.Arg241Trp)not specified [RCV004362522]uncertain significance2186636171186636171Humanname
405855057CV2831256single nucleotide variantNM_002210.5(ITGAV):c.432G>C (p.Trp144Cys)ITGAV deficiency [RCV004555913]pathogenic2186625496186625496Humanname , trait
405271274CV3219017single nucleotide variantNM_002210.5(ITGAV):c.3090A>G (p.Glu1030=)ITGAV-related disorder [RCV003971742]likely benign2186677235186677235Humanname , trait , alternate_id
405805897CV3268054single nucleotide variantNM_002210.5(ITGAV):c.470C>A (p.Thr157Lys)not specified [RCV004405759]uncertain significance2186625534186625534Humanname
405805898CV3268055single nucleotide variantNM_002210.5(ITGAV):c.678C>A (p.Asp226Glu)not specified [RCV004405760]uncertain significance2186636128186636128Humanname
405805902CV3268057single nucleotide variantNM_002210.5(ITGAV):c.697A>G (p.Lys233Glu)not specified [RCV004405762]uncertain significance2186636147186636147Humanname
407458874CV3451680single nucleotide variantNM_002210.5(ITGAV):c.973A>T (p.Ile325Phe)not specified [RCV004633440]uncertain significance2186641402186641402Humanname
597793596CV3686930single nucleotide variantNM_002210.5(ITGAV):c.733G>A (p.Ala245Thr)not specified [RCV004934235]uncertain significance2186636183186636183Humanname
597793619CV3686938single nucleotide variantNM_002210.5(ITGAV):c.979G>A (p.Ala327Thr)not specified [RCV004934243]uncertain significance2186641408186641408Humanname
597793626CV3686940single nucleotide variantNM_002210.5(ITGAV):c.997C>T (p.Arg333Cys)not specified [RCV004934245]uncertain significance2186641426186641426Humanname
597793628CV3686941single nucleotide variantNM_002210.5(ITGAV):c.884A>C (p.Tyr295Ser)not specified [RCV004934246]uncertain significance2186638446186638446Humanname
156043747CV2215877single nucleotide variantNM_002210.5(ITGAV):c.2407G>A (p.Gly803Arg)not specified [RCV004096970]uncertain significance2186667750186667750Humanname
155925517CV2230451single nucleotide variantNM_002210.5(ITGAV):c.1978A>G (p.Lys660Glu)not specified [RCV004097430]uncertain significance2186664546186664546Humanname
155977716CV2266439single nucleotide variantNM_002210.5(ITGAV):c.1163T>C (p.Ile388Thr)not specified [RCV004131021]uncertain significance2186646689186646689Humanname
156023871CV2273811single nucleotide variantNM_002210.5(ITGAV):c.1295C>A (p.Pro432Gln)not specified [RCV004132443]uncertain significance2186646821186646821Humanname
156255310CV2277501single nucleotide variantNM_002210.5(ITGAV):c.2566A>G (p.Met856Val)not specified [RCV004145193]uncertain significance2186668894186668894Humanname
156167476CV2279813single nucleotide variantNM_002210.5(ITGAV):c.2177G>T (p.Gly726Val)not specified [RCV004144420]uncertain significance2186666714186666714Humanname
156082215CV2301147single nucleotide variantNM_002210.5(ITGAV):c.2319G>C (p.Glu773Asp)not specified [RCV004160059]uncertain significance2186667222186667222Humanname
156243553CV2306828single nucleotide variantNM_002210.5(ITGAV):c.1573G>A (p.Val525Met)not specified [RCV004159395]uncertain significance2186656255186656255Humanname
155961445CV2311913single nucleotide variantNM_002210.5(ITGAV):c.1910A>C (p.Glu637Ala)not specified [RCV004170741]uncertain significance2186663820186663820Humanname
156050174CV2315914single nucleotide variantNM_002210.5(ITGAV):c.2899C>G (p.Pro967Ala)not specified [RCV004171681]uncertain significance2186675898186675898Humanname
155985628CV2344537single nucleotide variantNM_002210.5(ITGAV):c.1120A>G (p.Ile374Val)not specified [RCV004195271]uncertain significance2186641549186641549Humanname
156216897CV2348070single nucleotide variantNM_002210.5(ITGAV):c.2074G>C (p.Ala692Pro)not specified [RCV004197751]uncertain significance2186665126186665126Humanname
155904573CV2353911single nucleotide variantNM_002210.5(ITGAV):c.1486A>G (p.Thr496Ala)not specified [RCV004201907]uncertain significance2186652070186652070Humanname
155933165CV2372229single nucleotide variantNM_002210.5(ITGAV):c.1709C>T (p.Ala570Val)not specified [RCV004217008]uncertain significance2186656391186656391Humanname
156143294CV2393555single nucleotide variantNM_002210.5(ITGAV):c.1207G>A (p.Val403Ile)not specified [RCV004231373]uncertain significance2186646733186646733Humanname
329358773CV2425371single nucleotide variantNM_002210.5(ITGAV):c.1678G>C (p.Gly560Arg)not specified [RCV004251032]uncertain significance2186656360186656360Humanname
329400850CV2449764single nucleotide variantNM_002210.5(ITGAV):c.2648G>A (p.Arg883Gln)not specified [RCV004270440]uncertain significance2186669756186669756Humanname
329367784CV2457096single nucleotide variantNM_002210.5(ITGAV):c.1462A>T (p.Asn488Tyr)not specified [RCV004264877]uncertain significance2186652046186652046Humanname
329401945CV2458010single nucleotide variantNM_002210.5(ITGAV):c.1757C>G (p.Thr586Ser)not specified [RCV004271581]uncertain significance2186659075186659075Humanname
329384716CV2458409single nucleotide variantNM_002210.5(ITGAV):c.1234G>A (p.Gly412Ser)not specified [RCV004266044]uncertain significance2186646760186646760Humanname
329376208CV2465352single nucleotide variantNM_002210.5(ITGAV):c.2878G>A (p.Glu960Lys)not specified [RCV004281136]uncertain significance2186675877186675877Humanname
401731428CV2674370single nucleotide variantNM_002210.5(ITGAV):c.1424C>A (p.Ala475Asp)not specified [RCV004289240]uncertain significance2186652008186652008Humanname
401734226CV2688437single nucleotide variantNM_002210.5(ITGAV):c.1677G>T (p.Arg559Ser)not specified [RCV004301422]uncertain significance2186656359186656359Humanname
401726240CV2695619single nucleotide variantNM_002210.5(ITGAV):c.2489C>G (p.Pro830Arg)not specified [RCV004299437]uncertain significance2186668817186668817Humanname
401773015CV2716430single nucleotide variantNM_002210.5(ITGAV):c.2059G>A (p.Val687Ile)not specified [RCV004325741]uncertain significance2186664627186664627Humanname
401767548CV2727200single nucleotide variantNM_002210.5(ITGAV):c.1847T>G (p.Ile616Ser)not specified [RCV004327336]uncertain significance2186659165186659165Humanname
401877913CV2757688single nucleotide variantNM_002210.5(ITGAV):c.1774C>T (p.Arg592Trp)not specified [RCV004334797]likely benign2186659092186659092Humanname
401884917CV2771053single nucleotide variantNM_002210.5(ITGAV):c.1946T>C (p.Ile649Thr)not specified [RCV004346062]uncertain significance2186664514186664514Humanname
401890468CV2778759single nucleotide variantNM_002210.5(ITGAV):c.1165G>A (p.Ala389Thr)not specified [RCV004346665]uncertain significance2186646691186646691Humanname
405855058CV2831257single nucleotide variantNM_002210.5(ITGAV):c.1136A>T (p.Asp379Val)ITGAV deficiency [RCV004555914]pathogenic2186641565186641565Humanname , trait
405282873CV3191169single nucleotide variantNM_002210.5(ITGAV):c.1655C>T (p.Ser552Phe)ITGAV-related disorder [RCV003921579]likely benign2186656337186656337Humanname , trait , alternate_id
405293450CV3191851single nucleotide variantNM_002210.5(ITGAV):c.1642T>G (p.Ser548Ala)ITGAV-related disorder [RCV003931835]likely benign2186656324186656324Humanname , trait , alternate_id
405805821CV3268038single nucleotide variantNM_002210.5(ITGAV):c.1054G>A (p.Ala352Thr)not specified [RCV004405743]uncertain significance2186641483186641483Humanname
405805823CV3268039single nucleotide variantNM_002210.5(ITGAV):c.1168A>G (p.Ile390Val)not specified [RCV004405744]uncertain significance2186646694186646694Humanname
405805825CV3268040single nucleotide variantNM_002210.5(ITGAV):c.1226G>T (p.Arg409Ile)not specified [RCV004405745]uncertain significance2186646752186646752Humanname
405805874CV3268042single nucleotide variantNM_002210.5(ITGAV):c.1544G>A (p.Gly515Glu)not specified [RCV004405747]uncertain significance2186654688186654688Humanname
405805876CV3268043single nucleotide variantNM_002210.5(ITGAV):c.1835C>T (p.Thr612Met)not specified [RCV004405748]uncertain significance2186659153186659153Humanname
405805882CV3268046single nucleotide variantNM_002210.5(ITGAV):c.2020A>G (p.Ile674Val)not specified [RCV004405751]uncertain significance2186664588186664588Humanname
405805884CV3268047single nucleotide variantNM_002210.5(ITGAV):c.2107G>C (p.Glu703Gln)not specified [RCV004405752]uncertain significance2186665159186665159Humanname
405805885CV3268048single nucleotide variantNM_002210.5(ITGAV):c.2251A>G (p.Asn751Asp)not specified [RCV004405753]uncertain significance2186667154186667154Humanname
405805887CV3268049single nucleotide variantNM_002210.5(ITGAV):c.2348T>C (p.Val783Ala)not specified [RCV004405754]uncertain significance2186667691186667691Humanname
405805889CV3268050single nucleotide variantNM_002210.5(ITGAV):c.2489C>T (p.Pro830Leu)not specified [RCV004405755]uncertain significance2186668817186668817Humanname
405805891CV3268051single nucleotide variantNM_002210.5(ITGAV):c.2564A>T (p.Asp855Val)not specified [RCV004405756]uncertain significance2186668892186668892Humanname
405805893CV3268052single nucleotide variantNM_002210.5(ITGAV):c.2683A>G (p.Ser895Gly)not specified [RCV004405757]uncertain significance2186669791186669791Humanname
405805895CV3268053single nucleotide variantNM_002210.5(ITGAV):c.2753G>C (p.Arg918Thr)not specified [RCV004405758]uncertain significance2186675650186675650Humanname
407458866CV3451677single nucleotide variantNM_002210.5(ITGAV):c.2668C>T (p.Arg890Trp)not specified [RCV004633437]uncertain significance2186669776186669776Humanname
407458869CV3451678single nucleotide variantNM_002210.5(ITGAV):c.2635G>A (p.Gly879Arg)not specified [RCV004633438]uncertain significance2186669743186669743Humanname
407458872CV3451679single nucleotide variantNM_002210.5(ITGAV):c.2774C>T (p.Ala925Val)not specified [RCV004633439]uncertain significance2186675671186675671Humanname
407458877CV3451681single nucleotide variantNM_002210.5(ITGAV):c.1360G>A (p.Val454Ile)not specified [RCV004633441]uncertain significance2186649848186649848Humanname
597793599CV3686931single nucleotide variantNM_002210.5(ITGAV):c.1831T>C (p.Phe611Leu)not specified [RCV004934236]uncertain significance2186659149186659149Humanname
597793602CV3686932single nucleotide variantNM_002210.5(ITGAV):c.2120G>A (p.Arg707His)not specified [RCV004934237]uncertain significance2186665172186665172Humanname
597793608CV3686934single nucleotide variantNM_002210.5(ITGAV):c.1249C>G (p.Pro417Ala)not specified [RCV004934239]uncertain significance2186646775186646775Humanname
597793632CV3686942single nucleotide variantNM_002210.5(ITGAV):c.1732T>G (p.Phe578Val)not specified [RCV004934247]uncertain significance2186659050186659050Humanname
597793640CV3686945single nucleotide variantNM_002210.5(ITGAV):c.1412T>A (p.Ile471Asn)not specified [RCV004934250]uncertain significance2186651996186651996Humanname
597793643CV3686946single nucleotide variantNM_002210.5(ITGAV):c.2749G>A (p.Gly917Arg)not specified [RCV004934251]uncertain significance2186675646186675646Humanname
597793646CV3686947single nucleotide variantNM_002210.5(ITGAV):c.1625T>C (p.Leu542Pro)not specified [RCV004934252]uncertain significance2186656307186656307Humanname
598171176CV3972740single nucleotide variantNM_002210.5(ITGAV):c.2149A>G (p.Met717Val)not specified [RCV005370526]uncertain significance2186665201186665201Humanname
598195807CV3972741single nucleotide variantNM_002210.5(ITGAV):c.2221G>A (p.Val741Met)not specified [RCV005355066]uncertain significance2186666758186666758Humanname
598171184CV3972743single nucleotide variantNM_002210.5(ITGAV):c.1669A>G (p.Ile557Val)not specified [RCV005370528]uncertain significance2186656351186656351Humanname
598195813CV3972744single nucleotide variantNM_002210.5(ITGAV):c.1336A>G (p.Lys446Glu)not specified [RCV005355067]uncertain significance2186646862186646862Humanname
598171190CV3972746single nucleotide variantNM_002210.5(ITGAV):c.2764G>A (p.Gly922Arg)not specified [RCV005370530]uncertain significance2186675661186675661Humanname
598171194CV3972747single nucleotide variantNM_002210.5(ITGAV):c.1504T>C (p.Cys502Arg)not specified [RCV005370531]uncertain significance2186652088186652088Humanname
598195818CV3972748single nucleotide variantNM_002210.5(ITGAV):c.2254C>A (p.Leu752Ile)not specified [RCV005355068]uncertain significance2186667157186667157Humanname
598211333CV3972749single nucleotide variantNM_002210.5(ITGAV):c.2081C>A (p.Ala694Glu)not specified [RCV005358664]uncertain significance2186665133186665133Humanname
598171198CV3972750single nucleotide variantNM_002210.5(ITGAV):c.2087T>C (p.Leu696Pro)not specified [RCV005370532]uncertain significance2186665139186665139Humanname
598195829CV3972752single nucleotide variantNM_002210.5(ITGAV):c.1066T>C (p.Phe356Leu)not specified [RCV005355070]uncertain significance2186641495186641495Humanname
156182615CV2288265single nucleotide variantNM_002210.5(ITGAV):c.3116A>G (p.His1039Arg)not specified [RCV004149773]uncertain significance2186677261186677261Humanname
156153252CV2328515single nucleotide variantNM_002210.5(ITGAV):c.3074G>A (p.Arg1025Gln)not specified [RCV004175888]uncertain significance2186677219186677219Humanname
597793605CV3686933single nucleotide variantNM_002210.5(ITGAV):c.3040G>T (p.Val1014Leu)not specified [RCV004934238]uncertain significance2186676924186676924Humanname
597793635CV3686943single nucleotide variantNM_002210.5(ITGAV):c.3080C>G (p.Pro1027Arg)not specified [RCV004934248]uncertain significance2186677225186677225Humanname
597793637CV3686944single nucleotide variantNM_002210.5(ITGAV):c.3085G>A (p.Glu1029Lys)not specified [RCV004934249]uncertain significance2186677230186677230Humanname
598171187CV3972745single nucleotide variantNM_002210.5(ITGAV):c.3034G>A (p.Val1012Ile)not specified [RCV005370529]uncertain significance2186676918186676918Humanname
8625230CV80349single nucleotide variantNM_001144999.2(ITGAV):c.2104C>T (p.Gln702Ter)Malignant melanoma [RCV000060426]not provided2186666779186666779Humanname