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53 records found for search term Mansc1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15163483CV738518single nucleotide variantNM_018050.4(MANSC1):c.129A>G (p.Ser43=)not provided [RCV000903783]benign121234318612343186Humanname
401905970CV2810214single nucleotide variantNM_018050.4(MANSC1):c.492C>T (p.Thr164=)not provided [RCV003396240]likely benign121233083112330831Humanname
156192332CV2223174single nucleotide variantNM_018050.4(MANSC1):c.215A>G (p.Asn72Ser)not specified [RCV004104017]uncertain significance121234310012343100Humanname
155919198CV2360186single nucleotide variantNM_018050.4(MANSC1):c.253G>A (p.Asp85Asn)not specified [RCV004603363]uncertain significance121233853112338531Humanname
329354525CV2448352single nucleotide variantNM_018050.4(MANSC1):c.131C>T (p.Ser44Phe)not specified [RCV004256638]uncertain significance121234318412343184Humanname
401725654CV2697502single nucleotide variantNM_018050.4(MANSC1):c.211A>C (p.Lys71Gln)not specified [RCV004297891]uncertain significance121234310412343104Humanname
405657070CV3288400single nucleotide variantNM_018050.4(MANSC1):c.235T>G (p.Cys79Gly)not specified [RCV004415996]uncertain significance121233854912338549Humanname
597624086CV3702811single nucleotide variantNM_018050.4(MANSC1):c.260G>A (p.Arg87Gln)not specified [RCV004937105]uncertain significance121233852412338524Humanname
598196319CV3988492single nucleotide variantNM_018050.4(MANSC1):c.239A>C (p.Asn80Thr)not specified [RCV005375247]uncertain significance121233854512338545Humanname
156317618CV2204017single nucleotide variantNM_018050.4(MANSC1):c.809C>T (p.Pro270Leu)not specified [RCV004070055]uncertain significance121233051412330514Humanname
155974852CV2270011single nucleotide variantNM_018050.4(MANSC1):c.928C>G (p.Pro310Ala)not specified [RCV004128997]uncertain significance121233039512330395Humanname
156292816CV2306271single nucleotide variantNM_018050.4(MANSC1):c.564G>T (p.Met188Ile)not specified [RCV004162994]likely benign121233075912330759Humanname
156272036CV2308732single nucleotide variantNM_018050.4(MANSC1):c.634G>A (p.Asp212Asn)not specified [RCV004169055]uncertain significance121233068912330689Humanname
156181101CV2327795single nucleotide variantNM_018050.4(MANSC1):c.704C>T (p.Pro235Leu)not specified [RCV004179139]likely benign121233061912330619Humanname
156307730CV2332089single nucleotide variantNM_018050.4(MANSC1):c.345G>A (p.Met115Ile)not specified [RCV004189133]uncertain significance121233843912338439Humanname
155991658CV2355499single nucleotide variantNM_018050.4(MANSC1):c.838A>T (p.Thr280Ser)not specified [RCV004205349]uncertain significance121233048512330485Humanname
156077531CV2375112single nucleotide variantNM_018050.4(MANSC1):c.576T>G (p.Ser192Arg)not specified [RCV004230157]uncertain significance121233074712330747Humanname
156057268CV2375835single nucleotide variantNM_018050.4(MANSC1):c.880C>T (p.Leu294Phe)not specified [RCV004224414]uncertain significance121233044312330443Humanname
156157231CV2378688single nucleotide variantNM_018050.4(MANSC1):c.729G>T (p.Lys243Asn)not specified [RCV004231156]uncertain significance121233059412330594Humanname
156258729CV2383839single nucleotide variantNM_018050.4(MANSC1):c.932C>T (p.Thr311Met)not specified [RCV004231702]uncertain significance121233039112330391Humanname
156149005CV2394541single nucleotide variantNM_018050.4(MANSC1):c.509A>C (p.Asp170Ala)not specified [RCV004240895]uncertain significance121233081412330814Humanname
329365971CV2437931single nucleotide variantNM_018050.4(MANSC1):c.959T>C (p.Ile320Thr)not specified [RCV004263654]uncertain significance121233036412330364Humanname
329397702CV2456502single nucleotide variantNM_018050.4(MANSC1):c.502T>C (p.Trp168Arg)not specified [RCV004275646]uncertain significance121233082112330821Humanname
401783118CV2716137single nucleotide variantNM_018050.4(MANSC1):c.962C>T (p.Pro321Leu)not specified [RCV004323376]uncertain significance121233036112330361Humanname
401884631CV2755930single nucleotide variantNM_018050.4(MANSC1):c.975C>G (p.Ile325Met)not specified [RCV004336019]uncertain significance121233034812330348Humanname
401870903CV2756512single nucleotide variantNM_018050.4(MANSC1):c.617G>A (p.Ser206Asn)not specified [RCV004345043]uncertain significance121233070612330706Humanname
401892979CV2758321single nucleotide variantNM_018050.4(MANSC1):c.934G>T (p.Asp312Tyr)not specified [RCV004341673]uncertain significance121233038912330389Humanname
401895127CV2792696single nucleotide variantNM_018050.4(MANSC1):c.556T>C (p.Phe186Leu)not specified [RCV004365473]likely benign121233076712330767Humanname
405657068CV3288401single nucleotide variantNM_018050.4(MANSC1):c.448G>A (p.Val150Ile)not specified [RCV004415997]likely benign121233087512330875Humanname
405657064CV3288402single nucleotide variantNM_018050.4(MANSC1):c.455C>T (p.Pro152Leu)not specified [RCV004415998]uncertain significance121233086812330868Humanname
405657062CV3288403single nucleotide variantNM_018050.4(MANSC1):c.478T>A (p.Tyr160Asn)not specified [RCV004415999]uncertain significance121233084512330845Humanname
405657059CV3288404single nucleotide variantNM_018050.4(MANSC1):c.674C>T (p.Ala225Val)not specified [RCV004416000]likely benign121233064912330649Humanname
405657057CV3288405single nucleotide variantNM_018050.4(MANSC1):c.748A>C (p.Thr250Pro)not specified [RCV004416001]uncertain significance121233057512330575Humanname
405656950CV3288406single nucleotide variantNM_018050.4(MANSC1):c.808C>T (p.Pro270Ser)not specified [RCV004416002]uncertain significance121233051512330515Humanname
405656921CV3288407single nucleotide variantNM_018050.4(MANSC1):c.839C>T (p.Thr280Met)not specified [RCV004416003]uncertain significance121233048412330484Humanname
405656925CV3288408single nucleotide variantNM_018050.4(MANSC1):c.842C>G (p.Thr281Ser)not specified [RCV004416004]uncertain significance121233048112330481Humanname
407468924CV3446350single nucleotide variantNM_018050.4(MANSC1):c.865C>T (p.Arg289Trp)not specified [RCV004636449]uncertain significance121233045812330458Humanname
597624087CV3702812single nucleotide variantNM_018050.4(MANSC1):c.698C>T (p.Ala233Val)not specified [RCV004937106]uncertain significance121233062512330625Humanname
597624089CV3702815single nucleotide variantNM_018050.4(MANSC1):c.397C>G (p.Gln133Glu)not specified [RCV004937108]uncertain significance121233092612330926Humanname
598196305CV3988489single nucleotide variantNM_018050.4(MANSC1):c.593A>G (p.Tyr198Cys)not specified [RCV005375245]uncertain significance121233073012330730Humanname
598165786CV3988491single nucleotide variantNM_018050.4(MANSC1):c.968C>T (p.Thr323Ile)not specified [RCV005369230]uncertain significance121233035512330355Humanname
598165792CV3988493single nucleotide variantNM_018050.4(MANSC1):c.931A>G (p.Thr311Ala)not specified [RCV005369231]uncertain significance121233039212330392Humanname
156274497CV2316381single nucleotide variantNM_018050.4(MANSC1):c.1082A>C (p.Glu361Ala)not specified [RCV004169881]uncertain significance121233024112330241Humanname
156274513CV2316382single nucleotide variantNM_018050.4(MANSC1):c.1083G>T (p.Glu361Asp)not specified [RCV004169882]uncertain significance121233024012330240Humanname
156352090CV2323892single nucleotide variantNM_018050.4(MANSC1):c.1094G>T (p.Gly365Val)not specified [RCV004176420]uncertain significance121233022912330229Humanname
156183918CV2349872single nucleotide variantNM_018050.4(MANSC1):c.1064C>T (p.Ala355Val)not specified [RCV004206294]uncertain significance121233025912330259Humanname
156149743CV2359545single nucleotide variantNM_018050.4(MANSC1):c.1247G>A (p.Arg416His)not specified [RCV004214853]uncertain significance121233007612330076Humanname
156051769CV2386422single nucleotide variantNM_018050.4(MANSC1):c.1162G>A (p.Gly388Arg)not specified [RCV004228749]uncertain significance121233016112330161Humanname
401783348CV2716309single nucleotide variantNM_018050.4(MANSC1):c.1049C>G (p.Thr350Ser)not specified [RCV004325308]uncertain significance121233027412330274Humanname
405657073CV3288399single nucleotide variantNM_018050.4(MANSC1):c.1118C>T (p.Pro373Leu)not specified [RCV004415995]uncertain significance121233020512330205Humanname
407493451CV3446351single nucleotide variantNM_018050.4(MANSC1):c.1041G>C (p.Glu347Asp)not specified [RCV004642739]likely benign121233028212330282Humanname
597624088CV3702813single nucleotide variantNM_018050.4(MANSC1):c.1232C>T (p.Ser411Leu)not specified [RCV004937107]uncertain significance121233009112330091Humanname
598196312CV3988490single nucleotide variantNM_018050.4(MANSC1):c.1204G>A (p.Val402Ile)not specified [RCV005375246]uncertain significance121233011912330119Humanname