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62 records found for search term Hsd17b2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
401758372CV2694070single nucleotide variantNM_002153.3(HSD17B2):c.276C>T (p.Cys92=)not specified [RCV004302505]likely benign168206818082068180Humanname
597774025CV3689670single nucleotide variantNM_002153.3(HSD17B2):c.12C>G (p.Phe4Leu)not specified [RCV004929011]uncertain significance168203543682035436Humanname
598205575CV3972081single nucleotide variantNM_002153.3(HSD17B2):c.29G>C (p.Trp10Ser)not specified [RCV005337630]uncertain significance168203545382035453Humanname
15200860CV703846single nucleotide variantNM_002153.3(HSD17B2):c.534G>A (p.Glu178=)not provided [RCV000957453]benign168207099782070997Humanname
15170131CV703847single nucleotide variantNM_002153.3(HSD17B2):c.936G>A (p.Ser312=)not provided [RCV000949592]benign168209820882098208Humanname
15179526CV726820single nucleotide variantNM_002153.3(HSD17B2):c.390G>A (p.Pro130=)not provided [RCV000885310]benign168206829482068294Humanname
15183276CV726821single nucleotide variantNM_002153.3(HSD17B2):c.925T>C (p.Leu309=)not provided [RCV000886191]benign168209819782098197Humanname
156026240CV2271039single nucleotide variantNM_002153.3(HSD17B2):c.115G>A (p.Val39Ile)not specified [RCV004134442]uncertain significance168203553982035539Humanname
156103382CV2352368single nucleotide variantNM_002153.3(HSD17B2):c.168G>C (p.Trp56Cys)not specified [RCV004200836]uncertain significance168203559282035592Humanname
401773508CV2698238single nucleotide variantNM_002153.3(HSD17B2):c.108C>A (p.Ser36Arg)not specified [RCV004304799]likely benign168203553282035532Humanname
407464781CV3434011single nucleotide variantNM_002153.3(HSD17B2):c.256C>G (p.Leu86Val)not specified [RCV004635166]uncertain significance168203568082035680Humanname
598255671CV3972084single nucleotide variantNM_002153.3(HSD17B2):c.178C>T (p.Leu60Phe)not specified [RCV005346606]uncertain significance168203560282035602Humanname
156327032CV2217192single nucleotide variantNM_002153.3(HSD17B2):c.392G>A (p.Arg131His)not specified [RCV004087647]uncertain significance168206829682068296Humanname
156386319CV2228180single nucleotide variantNM_002153.3(HSD17B2):c.521C>T (p.Pro174Leu)not specified [RCV004096389]uncertain significance168207098482070984Humanname
156293719CV2233572single nucleotide variantNM_002153.3(HSD17B2):c.453G>C (p.Lys151Asn)not specified [RCV004100047]uncertain significance168206835782068357Humanname
156033755CV2275157single nucleotide variantNM_002153.3(HSD17B2):c.893A>G (p.Asp298Gly)not specified [RCV004136955]uncertain significance168209816582098165Humanname
155924484CV2277123single nucleotide variantNM_002153.3(HSD17B2):c.389C>T (p.Pro130Leu)not specified [RCV004142771]uncertain significance168206829382068293Humanname
156293947CV2293133single nucleotide variantNM_002153.3(HSD17B2):c.535C>T (p.Leu179Phe)not specified [RCV004150655]uncertain significance168207099882070998Humanname
155902910CV2301536single nucleotide variantNM_002153.3(HSD17B2):c.886G>A (p.Gly296Ser)not specified [RCV004162450]uncertain significance168209815882098158Humanname
156180302CV2324425single nucleotide variantNM_002153.3(HSD17B2):c.523A>T (p.Thr175Ser)not specified [RCV004178916]likely benign168207098682070986Humanname
156193654CV2351801single nucleotide variantNM_002153.3(HSD17B2):c.323C>T (p.Thr108Met)not specified [RCV004197953]uncertain significance168206822782068227Humanname
156143638CV2358592single nucleotide variantNM_002153.3(HSD17B2):c.334G>A (p.Gly112Arg)not specified [RCV004207469]uncertain significance168206823882068238Humanname
156306673CV2360023single nucleotide variantNM_002153.3(HSD17B2):c.298A>C (p.Lys100Gln)not specified [RCV004212858]uncertain significance168206820282068202Humanname
156055377CV2361382single nucleotide variantNM_002153.3(HSD17B2):c.463A>G (p.Met155Val)not specified [RCV004218584]uncertain significance168206836782068367Humanname
155969451CV2391579single nucleotide variantNM_002153.3(HSD17B2):c.465G>A (p.Met155Ile)not specified [RCV004239958]uncertain significance168206836982068369Humanname
155958626CV2395224single nucleotide variantNM_002153.3(HSD17B2):c.796C>G (p.Leu266Val)not specified [RCV004236889]uncertain significance168209103382091033Humanname
329372430CV2424089single nucleotide variantNM_002153.3(HSD17B2):c.612G>C (p.Leu204Phe)not specified [RCV004247994]uncertain significance168207107582071075Humanname
329367886CV2427625single nucleotide variantNM_002153.3(HSD17B2):c.323C>G (p.Thr108Arg)not specified [RCV004250256]uncertain significance168206822782068227Humanname
401729626CV2733197single nucleotide variantNM_002153.3(HSD17B2):c.688G>A (p.Ala230Thr)not specified [RCV004332118]uncertain significance168209092582090925Humanname
401893037CV2758415single nucleotide variantNM_002153.3(HSD17B2):c.865G>T (p.Ala289Ser)not specified [RCV004335072]uncertain significance168209813782098137Humanname
401860957CV2758691single nucleotide variantNM_002153.3(HSD17B2):c.734T>A (p.Val245Asp)not specified [RCV004337756]uncertain significance168209097182090971Humanname
401860250CV2768525single nucleotide variantNM_002153.3(HSD17B2):c.790G>T (p.Gly264Cys)not specified [RCV004344403]uncertain significance168209102782091027Humanname
401864387CV2777821single nucleotide variantNM_002153.3(HSD17B2):c.891G>C (p.Gln297His)not specified [RCV004346010]uncertain significance168209816382098163Humanname
401875024CV2791018single nucleotide variantNM_002153.3(HSD17B2):c.992C>A (p.Ala331Glu)not specified [RCV004354632]uncertain significance168209826482098264Humanname
405803484CV3274163single nucleotide variantNM_002153.3(HSD17B2):c.394C>A (p.Leu132Ile)not specified [RCV004404470]uncertain significance168206829882068298Humanname
405803485CV3274164single nucleotide variantNM_002153.3(HSD17B2):c.596T>C (p.Val199Ala)not specified [RCV004404471]uncertain significance168207105982071059Humanname
405803489CV3274166single nucleotide variantNM_002153.3(HSD17B2):c.654C>G (p.Ser218Arg)not specified [RCV004404473]uncertain significance168207111782071117Humanname
405803491CV3274167single nucleotide variantNM_002153.3(HSD17B2):c.785C>T (p.Pro262Leu)not specified [RCV004404474]uncertain significance168209102282091022Humanname
405803492CV3274168single nucleotide variantNM_002153.3(HSD17B2):c.848T>A (p.Ile283Asn)not specified [RCV004404475]uncertain significance168209812082098120Humanname
405803494CV3274169single nucleotide variantNM_002153.3(HSD17B2):c.865G>A (p.Ala289Thr)not specified [RCV004404476]uncertain significance168209813782098137Humanname
405803498CV3274171single nucleotide variantNM_002153.3(HSD17B2):c.991G>A (p.Ala331Thr)not specified [RCV004404478]uncertain significance168209826382098263Humanname
407458147CV3416301single nucleotide variantNM_002153.3(HSD17B2):c.440A>C (p.Asp147Ala)not provided [RCV004599179]uncertain significance168206834482068344Humanname
407464766CV3434008single nucleotide variantNM_002153.3(HSD17B2):c.959C>T (p.Pro320Leu)not specified [RCV004635163]uncertain significance168209823182098231Humanname
407464771CV3434009single nucleotide variantNM_002153.3(HSD17B2):c.566T>C (p.Met189Thr)not specified [RCV004635164]uncertain significance168207102982071029Humanname
407464776CV3434010single nucleotide variantNM_002153.3(HSD17B2):c.998G>C (p.Ser333Thr)not specified [RCV004635165]uncertain significance168209827082098270Humanname
597774021CV3689668single nucleotide variantNM_002153.3(HSD17B2):c.890A>C (p.Gln297Pro)not specified [RCV004929010]uncertain significance168209816282098162Humanname
597774029CV3689671single nucleotide variantNM_002153.3(HSD17B2):c.850C>G (p.Leu284Val)not specified [RCV004929012]uncertain significance168209812282098122Humanname
597774033CV3689672single nucleotide variantNM_002153.3(HSD17B2):c.948G>T (p.Lys316Asn)not specified [RCV004929013]uncertain significance168209822082098220Humanname
597774039CV3689673single nucleotide variantNM_002153.3(HSD17B2):c.982G>A (p.Ala328Thr)not specified [RCV004929014]uncertain significance168209825482098254Humanname
597774043CV3689674single nucleotide variantNM_002153.3(HSD17B2):c.874C>G (p.Gln292Glu)not specified [RCV004929015]uncertain significance168209814682098146Humanname
597774047CV3689675single nucleotide variantNM_002153.3(HSD17B2):c.808G>A (p.Ala270Thr)not specified [RCV004929016]uncertain significance168209808082098080Humanname
598255666CV3972082single nucleotide variantNM_002153.3(HSD17B2):c.419C>T (p.Thr140Met)not specified [RCV005346605]uncertain significance168206832382068323Humanname
598205583CV3972083single nucleotide variantNM_002153.3(HSD17B2):c.692C>A (p.Ser231Tyr)not specified [RCV005337631]uncertain significance168209092982090929Humanname
15157439CV715104single nucleotide variantNM_002153.3(HSD17B2):c.361G>A (p.Ala121Thr)not provided [RCV000969307]benign168206826582068265Humanname
15160030CV715105single nucleotide variantNM_002153.3(HSD17B2):c.676A>G (p.Met226Val)not provided [RCV000969821]benign168209091382090913Humanname
15118775CV715106single nucleotide variantNM_002153.3(HSD17B2):c.719C>G (p.Thr240Ser)not provided [RCV000962436]benign168209095682090956Humanname
15166792CV740382single nucleotide variantNM_002153.3(HSD17B2):c.992C>T (p.Ala331Val)not provided [RCV000904518]likely benign168209826482098264Humanname
8635929CV91152single nucleotide variantNM_002153.2(HSD17B2):c.760G>A (p.Gly254Arg)Malignant melanoma [RCV000071250]not provided168209099782090997Humanname
401868756CV2782172single nucleotide variantNM_002153.3(HSD17B2):c.1030G>A (p.Ala344Thr)not specified [RCV004359150]uncertain significance168209830282098302Humanname
405803482CV3274162single nucleotide variantNM_002153.3(HSD17B2):c.1009T>C (p.Tyr337His)not specified [RCV004404469]uncertain significance168209828182098281Humanname
597774051CV3689676single nucleotide variantNM_002153.3(HSD17B2):c.1119G>A (p.Met373Ile)not specified [RCV004929017]uncertain significance168209839182098391Humanname
598255662CV3972080single nucleotide variantNM_002153.3(HSD17B2):c.1147A>C (p.Lys383Gln)not specified [RCV005346604]uncertain significance168209841982098419Humanname