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72 records found for search term Btbd2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
401908275CV2815124single nucleotide variantNM_017797.4(BTBD2):c.408-8C>Tnot provided [RCV003423177]likely benign1919974711997471Humanname
596947231CV3548781single nucleotide variantNM_017797.4(BTBD2):c.93C>T (p.Asn31=)not provided [RCV004811105]likely benign1920156112015611Humanname
597784678CV3647060single nucleotide variantNM_017797.4(BTBD2):c.7G>A (p.Ala3Thr)not specified [RCV004900544]uncertain significance1920156972015697Humanname
401908203CV2815125single nucleotide variantNM_017797.4(BTBD2):c.195C>T (p.Pro65=)not provided [RCV003423178]likely benign1920155092015509Humanname
405259722CV3195143single nucleotide variantNM_017797.4(BTBD2):c.25C>T (p.Arg9Cys)BTBD2-related disorder [RCV003894340]likely benign1920156792015679Humanname , trait , alternate_id
598175582CV3949759single nucleotide variantNM_017797.4(BTBD2):c.23G>C (p.Gly8Ala)not specified [RCV005309874]uncertain significance1920156812015681Humanname
156291170CV2236385single nucleotide variantNM_017797.4(BTBD2):c.64A>T (p.Thr22Ser)not specified [RCV004108064]uncertain significance1920156402015640Humanname
401906816CV2815121single nucleotide variantNM_017797.4(BTBD2):c.753C>T (p.Asp251=)not provided [RCV003421719]likely benign1919907541990754Humanname
401908200CV2815122single nucleotide variantNM_017797.4(BTBD2):c.507T>A (p.Ala169=)not provided [RCV003423176]likely benign1919973641997364Humanname
401936073CV2815123single nucleotide variantNM_017797.4(BTBD2):c.432C>T (p.Ala144=)not provided [RCV003413516]likely benign1919974391997439Humanname
155970147CV2241310single nucleotide variantNM_017797.4(BTBD2):c.242C>T (p.Ala81Val)not specified [RCV004102452]uncertain significance1920154622015462Humanname
156347541CV2315333single nucleotide variantNM_017797.4(BTBD2):c.273G>C (p.Glu91Asp)not specified [RCV004167312]uncertain significance1920154312015431Humanname
156328314CV2332234single nucleotide variantNM_017797.4(BTBD2):c.110C>T (p.Ala37Val)not specified [RCV004189267]uncertain significance1920155942015594Humanname
156102413CV2400129single nucleotide variantNM_017797.4(BTBD2):c.172A>C (p.Thr58Pro)not specified [RCV004242933]uncertain significance1920155322015532Humanname
329400151CV2440679single nucleotide variantNM_017797.4(BTBD2):c.268C>T (p.Arg90Cys)not specified [RCV004256587]uncertain significance1920154362015436Humanname
329356509CV2460374single nucleotide variantNM_017797.4(BTBD2):c.236A>C (p.Glu79Ala)not specified [RCV004268690]uncertain significance1920154682015468Humanname
401744039CV2684837single nucleotide variantNM_017797.4(BTBD2):c.160G>T (p.Ala54Ser)not specified [RCV004293909]uncertain significance1920155442015544Humanname
401738091CV2700959single nucleotide variantNM_017797.4(BTBD2):c.253G>A (p.Ala85Thr)not specified [RCV004307220]uncertain significance1920154512015451Humanname
401751876CV2702934single nucleotide variantNM_017797.4(BTBD2):c.272A>T (p.Glu91Val)not specified [RCV004321262]uncertain significance1920154322015432Humanname
405710497CV3298566single nucleotide variantNM_017797.4(BTBD2):c.1509C>T (p.Tyr503=)not specified [RCV004426736]likely benign1919865571986557Humanname
405710504CV3298567single nucleotide variantNM_017797.4(BTBD2):c.251G>C (p.Gly84Ala)not specified [RCV004426737]uncertain significance1920154532015453Humanname
407489058CV3421664single nucleotide variantNM_017797.4(BTBD2):c.185C>A (p.Pro62Gln)not specified [RCV004604083]uncertain significance1920155192015519Humanname
597784656CV3647052single nucleotide variantNM_017797.4(BTBD2):c.145G>T (p.Ala49Ser)not specified [RCV004900538]uncertain significance1920155592015559Humanname
597784661CV3647055single nucleotide variantNM_017797.4(BTBD2):c.286T>C (p.Trp96Arg)not specified [RCV004900540]uncertain significance1920154182015418Humanname
597784669CV3647058single nucleotide variantNM_017797.4(BTBD2):c.122C>A (p.Ala41Glu)not specified [RCV004900542]uncertain significance1920155822015582Humanname
597784674CV3647059single nucleotide variantNM_017797.4(BTBD2):c.115G>A (p.Gly39Ser)not specified [RCV004900543]uncertain significance1920155892015589Humanname
598175589CV3949761single nucleotide variantNM_017797.4(BTBD2):c.179C>G (p.Pro60Arg)not specified [RCV005309875]uncertain significance1920155252015525Humanname
8628244CV83388single nucleotide variantNM_017797.3(BTBD2):c.1077C>T (p.Phe359=)Malignant melanoma [RCV000063468]not provided1919876041987604Humanname
156134744CV2213220single nucleotide variantNM_017797.4(BTBD2):c.670A>G (p.Met224Val)not specified [RCV004085444]uncertain significance1919930341993034Humanname
156271660CV2280775single nucleotide variantNM_017797.4(BTBD2):c.422T>C (p.Val141Ala)not specified [RCV004145039]uncertain significance1919974491997449Humanname
156108625CV2355417single nucleotide variantNM_017797.4(BTBD2):c.602C>T (p.Ala201Val)not specified [RCV004205272]uncertain significance1919931021993102Humanname
155929029CV2356612single nucleotide variantNM_017797.4(BTBD2):c.817G>A (p.Asp273Asn)not specified [RCV004201977]uncertain significance1919901751990175Humanname
155996826CV2398611single nucleotide variantNM_017797.4(BTBD2):c.841C>T (p.Arg281Trp)not specified [RCV004237920]uncertain significance1919901511990151Humanname
329394138CV2472345single nucleotide variantNM_017797.4(BTBD2):c.863G>A (p.Arg288His)not specified [RCV004285230]uncertain significance1919901291990129Humanname
401721272CV2673659single nucleotide variantNM_017797.4(BTBD2):c.343G>A (p.Val115Met)not specified [RCV004282391]uncertain significance1920153612015361Humanname
401728688CV2729741single nucleotide variantNM_017797.4(BTBD2):c.301C>T (p.Pro101Ser)not specified [RCV004331994]uncertain significance1920154032015403Humanname
405710509CV3298568single nucleotide variantNM_017797.4(BTBD2):c.578C>A (p.Thr193Lys)not specified [RCV004426738]uncertain significance1919931261993126Humanname
405710516CV3298569single nucleotide variantNM_017797.4(BTBD2):c.737A>G (p.Asp246Gly)not specified [RCV004426739]uncertain significance1919907701990770Humanname
405710521CV3298570single nucleotide variantNM_017797.4(BTBD2):c.738C>G (p.Asp246Glu)not specified [RCV004426740]uncertain significance1919907691990769Humanname
405710527CV3298571single nucleotide variantNM_017797.4(BTBD2):c.833G>A (p.Arg278His)not specified [RCV004426741]uncertain significance1919901591990159Humanname
407489047CV3421662single nucleotide variantNM_017797.4(BTBD2):c.391C>T (p.Arg131Cys)not specified [RCV004604081]uncertain significance1920153132015313Humanname
407489053CV3421663single nucleotide variantNM_017797.4(BTBD2):c.923A>C (p.Lys308Thr)not specified [RCV004604082]uncertain significance1919900691990069Humanname
597749726CV3647053single nucleotide variantNM_017797.4(BTBD2):c.830T>C (p.Ile277Thr)not specified [RCV004892415]uncertain significance1919901621990162Humanname
597749735CV3647062single nucleotide variantNM_017797.4(BTBD2):c.367G>A (p.Val123Met)not specified [RCV004892417]uncertain significance1920153372015337Humanname
598175539CV3949750single nucleotide variantNM_017797.4(BTBD2):c.905C>T (p.Thr302Met)not specified [RCV005309867]uncertain significance1919900871990087Humanname
598175546CV3949751single nucleotide variantNM_017797.4(BTBD2):c.856G>A (p.Val286Ile)not specified [RCV005309868]uncertain significance1919901361990136Humanname
598175571CV3949755single nucleotide variantNM_017797.4(BTBD2):c.857T>C (p.Val286Ala)not specified [RCV005309872]uncertain significance1919901351990135Humanname
598175575CV3949756single nucleotide variantNM_017797.4(BTBD2):c.412G>A (p.Val138Met)not specified [RCV005309873]uncertain significance1919974591997459Humanname
598211211CV3949760single nucleotide variantNM_017797.4(BTBD2):c.877G>A (p.Glu293Lys)not specified [RCV005315977]uncertain significance1919901151990115Humanname
155986493CV2247983single nucleotide variantNM_017797.4(BTBD2):c.1387G>A (p.Val463Ile)not specified [RCV004121410]uncertain significance1919868591986859Humanname
155984118CV2275327single nucleotide variantNM_017797.4(BTBD2):c.1337C>T (p.Ala446Val)not specified [RCV004137096]uncertain significance1919869091986909Humanname
156342576CV2344011single nucleotide variantNM_017797.4(BTBD2):c.1001C>T (p.Ser334Leu)not specified [RCV004195627]uncertain significance1919876801987680Humanname
401740515CV2679743single nucleotide variantNM_017797.4(BTBD2):c.1420C>T (p.Pro474Ser)not specified [RCV004282209]uncertain significance1919866461986646Humanname
405710455CV3298560single nucleotide variantNM_017797.4(BTBD2):c.1085G>A (p.Arg362Gln)not specified [RCV004426730]uncertain significance1919875961987596Humanname
405710464CV3298561single nucleotide variantNM_017797.4(BTBD2):c.1088C>G (p.Pro363Arg)not specified [RCV004426731]uncertain significance1919875931987593Humanname
405710473CV3298562single nucleotide variantNM_017797.4(BTBD2):c.1327G>A (p.Asp443Asn)not specified [RCV004426732]uncertain significance1919869191986919Humanname
405710480CV3298563single nucleotide variantNM_017797.4(BTBD2):c.1348C>T (p.Arg450Cys)not specified [RCV004426733]uncertain significance1919868981986898Humanname
405710487CV3298564single nucleotide variantNM_017797.4(BTBD2):c.1351G>A (p.Val451Ile)not specified [RCV004426734]uncertain significance1919868951986895Humanname
405710492CV3298565single nucleotide variantNM_017797.4(BTBD2):c.1375G>A (p.Val459Met)not specified [RCV004426735]uncertain significance1919868711986871Humanname
407489036CV3421660single nucleotide variantNM_017797.4(BTBD2):c.1313C>T (p.Thr438Met)not specified [RCV004604079]uncertain significance1919869331986933Humanname
407489042CV3421661single nucleotide variantNM_017797.4(BTBD2):c.1207G>A (p.Val403Met)not specified [RCV004604080]uncertain significance1919872281987228Humanname
597784652CV3647051single nucleotide variantNM_017797.4(BTBD2):c.1295T>C (p.Val432Ala)not specified [RCV004900537]uncertain significance1919869511986951Humanname
597749730CV3647056single nucleotide variantNM_017797.4(BTBD2):c.1103G>T (p.Arg368Leu)not specified [RCV004892416]uncertain significance1919875781987578Humanname
597784665CV3647057single nucleotide variantNM_017797.4(BTBD2):c.1243C>T (p.Pro415Ser)not specified [RCV004900541]uncertain significance1919871921987192Humanname
597784682CV3647061single nucleotide variantNM_017797.4(BTBD2):c.1045T>G (p.Phe349Val)not specified [RCV004900545]uncertain significance1919876361987636Humanname
597784687CV3647063single nucleotide variantNM_017797.4(BTBD2):c.1274T>G (p.Ile425Ser)not specified [RCV004900546]uncertain significance1919869721986972Humanname
597749745CV3647066single nucleotide variantNM_017797.4(BTBD2):c.1546G>T (p.Gly516Cys)not specified [RCV004892419]uncertain significance1919865201986520Humanname
598175552CV3949752single nucleotide variantNM_017797.4(BTBD2):c.1463A>G (p.His488Arg)not specified [RCV005309869]uncertain significance1919866031986603Humanname
598175557CV3949753single nucleotide variantNM_017797.4(BTBD2):c.1300G>A (p.Gly434Ser)not specified [RCV005309870]uncertain significance1919869461986946Humanname
598211196CV3949757single nucleotide variantNM_017797.4(BTBD2):c.1097G>C (p.Cys366Ser)not specified [RCV005315975]uncertain significance1919875841987584Humanname
598211204CV3949758single nucleotide variantNM_017797.4(BTBD2):c.1309G>A (p.Asp437Asn)not specified [RCV005315976]uncertain significance1919869371986937Humanname
405264188CV3189895microsatelliteNM_017797.4(BTBD2):c.124GCC[6] (p.Ala48_Ala54del)BTBD2-related disorder [RCV003896943]|not provided [RCV004810563]likely benign1920155422015562Humanname , trait , alternate_id