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67 records found for search term Farsa
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
150480229CV1239534duplicationNM_004461.3(FARSA):c.926+15dupnot provided [RCV001652697]benign191292507412925075Humanname
150483787CV1245169single nucleotide variantNM_004461.3(FARSA):c.1027-17T>Cnot provided [RCV001653346]benign191292482412924824Humanname
598127523CV3888222single nucleotide variantNM_004461.3(FARSA):c.88C>T (p.Leu30=)not provided [RCV005242908]uncertain significance191293360912933609Humanname
597695368CV3672134single nucleotide variantNM_004461.3(FARSA):c.20C>T (p.Ala7Val)not specified [RCV004915761]uncertain significance191293367712933677Humanname
597695441CV3672141single nucleotide variantNM_004461.3(FARSA):c.25C>A (p.Leu9Met)not specified [RCV004915768]uncertain significance191293367212933672Humanname
156387883CV2221642single nucleotide variantNM_004461.3(FARSA):c.92G>A (p.Gly31Asp)not specified [RCV004096889]uncertain significance191293360512933605Humanname
155957629CV2387528single nucleotide variantNM_004461.3(FARSA):c.67A>G (p.Ser23Gly)not specified [RCV004240379]uncertain significance191293363012933630Humanname
329377787CV2462747single nucleotide variantNM_004461.3(FARSA):c.65A>C (p.Asp22Ala)not specified [RCV004278670]uncertain significance191293363212933632Humanname
401928520CV2811625single nucleotide variantNM_004461.3(FARSA):c.780C>T (p.Asp260=)not provided [RCV003406861]likely benign191292840312928403Humanname
401906974CV2811626single nucleotide variantNM_004461.3(FARSA):c.486G>A (p.Arg162=)FARSA-related disorder [RCV003938963]|not provided [RCV003421847]benign|likely benign191293024012930240Human1name , trait , alternate_id
405258397CV3203748single nucleotide variantNM_004461.3(FARSA):c.849G>A (p.Ala283=)FARSA-related disorder [RCV003941929]benign191292516712925167Humanname , trait , alternate_id
405289207CV3204977single nucleotide variantNM_004461.3(FARSA):c.813T>C (p.Arg271=)FARSA-related disorder [RCV003961608]likely benign191292837012928370Humanname , trait , alternate_id
405763182CV3253117single nucleotide variantNM_004461.3(FARSA):c.82G>T (p.Ala28Ser)not specified [RCV004383833]uncertain significance191293361512933615Humanname
405763187CV3253118single nucleotide variantNM_004461.3(FARSA):c.83C>T (p.Ala28Val)not specified [RCV004383834]uncertain significance191293361412933614Humanname
597695427CV3672140single nucleotide variantNM_004461.3(FARSA):c.34C>T (p.Arg12Trp)not specified [RCV004915767]uncertain significance191293366312933663Humanname
617153057CV4021028single nucleotide variantNM_004461.3(FARSA):c.699G>A (p.Gln233=)not provided [RCV005428781]likely benign191292856112928561Humanname
401717908CV2704077single nucleotide variantNM_004461.3(FARSA):c.160G>A (p.Glu54Lys)not specified [RCV004308951]uncertain significance191293073712930737Humanname
401928518CV2811624single nucleotide variantNM_004461.3(FARSA):c.1134G>A (p.Ala378=)not provided [RCV003406860]likely benign191292470012924700Humanname
405280832CV3190556single nucleotide variantNM_004461.3(FARSA):c.1125C>T (p.Gly375=)FARSA-related disorder [RCV003906995]likely benign191292470912924709Humanname , trait , alternate_id
405274980CV3199881single nucleotide variantNM_004461.3(FARSA):c.1131G>A (p.Val377=)FARSA-related disorder [RCV003973915]|not provided [RCV005242540]benign|likely benign191292470312924703Human1name , trait , alternate_id
405278631CV3220364single nucleotide variantNM_004461.3(FARSA):c.1347C>T (p.Pro449=)FARSA-related disorder [RCV003976586]benign191292419212924192Humanname , trait , alternate_id
405653747CV3227940single nucleotide variantNM_004461.3(FARSA):c.244C>T (p.Arg82Ter)Rajab interstitial lung disease with brain calcifications 2 [RCV003994682]uncertain significance191293065312930653Human1name
405763145CV3253111single nucleotide variantNM_004461.3(FARSA):c.112G>A (p.Val38Met)not specified [RCV004383827]uncertain significance191293358512933585Humanname
405763158CV3253113single nucleotide variantNM_004461.3(FARSA):c.170C>T (p.Ser57Phe)not specified [RCV004383829]uncertain significance191293072712930727Humanname
405763164CV3253114single nucleotide variantNM_004461.3(FARSA):c.214C>T (p.Arg72Trp)not specified [RCV004383830]uncertain significance191293068312930683Humanname
597695400CV3672137single nucleotide variantNM_004461.3(FARSA):c.154G>A (p.Glu52Lys)not specified [RCV004915764]uncertain significance191293074312930743Humanname
152982979CV1677826single nucleotide variantNM_004461.3(FARSA):c.812G>A (p.Arg271His)Rajab interstitial lung disease with brain calcifications 2 [RCV002249979]pathogenic191292837112928371Human1name
155796490CV1860120single nucleotide variantNM_004461.3(FARSA):c.733G>A (p.Glu245Lys)Rajab interstitial lung disease with brain calcifications 2 [RCV002466388]uncertain significance191292845012928450Human1name
156253840CV2193157single nucleotide variantNM_004461.3(FARSA):c.395T>C (p.Met132Thr)not specified [RCV004071155]uncertain significance191293033112930331Humanname
156178809CV2331343single nucleotide variantNM_004461.3(FARSA):c.523G>C (p.Val175Leu)not specified [RCV004183985]uncertain significance191292882812928828Humanname
156178832CV2331344single nucleotide variantNM_004461.3(FARSA):c.653T>G (p.Leu218Arg)not specified [RCV004183986]uncertain significance191292860712928607Humanname
156202260CV2334663single nucleotide variantNM_004461.3(FARSA):c.848C>T (p.Ala283Val)not specified [RCV004188646]uncertain significance191292516812925168Humanname
155921050CV2340385single nucleotide variantNM_004461.3(FARSA):c.416G>A (p.Arg139Gln)not specified [RCV004197116]uncertain significance191293031012930310Humanname
156269532CV2379312single nucleotide variantNM_004461.3(FARSA):c.412C>T (p.Arg138Trp)not specified [RCV004223778]uncertain significance191293031412930314Humanname
401759120CV2694427single nucleotide variantNM_004461.3(FARSA):c.413G>A (p.Arg138Gln)not specified [RCV004304601]uncertain significance191293031312930313Humanname
401862937CV2758875single nucleotide variantNM_004461.3(FARSA):c.341G>A (p.Arg114Gln)not specified [RCV004339963]uncertain significance191293047212930472Humanname
405261728CV3205116single nucleotide variantNM_004461.3(FARSA):c.409C>A (p.Gln137Lys)FARSA-related disorder [RCV003944586]benign191293031712930317Humanname , trait , alternate_id
405292906CV3210466single nucleotide variantNM_004461.3(FARSA):c.613C>T (p.Arg205Trp)FARSA-related disorder [RCV003931427]|not provided [RCV005242488]likely benign191292864712928647Human1name , trait , alternate_id
405691853CV3227602single nucleotide variantNM_004461.3(FARSA):c.916G>A (p.Gly306Ser)Rajab interstitial lung disease with brain calcifications 2 [RCV003991948]|not provided [RCV005412647]uncertain significance191292510012925100Human1name
405763170CV3253115single nucleotide variantNM_004461.3(FARSA):c.430C>T (p.Arg144Trp)not specified [RCV004383831]uncertain significance191293029612930296Humanname
405763179CV3253116single nucleotide variantNM_004461.3(FARSA):c.740C>T (p.Pro247Leu)not specified [RCV004383832]uncertain significance191292844312928443Humanname
597695380CV3672135single nucleotide variantNM_004461.3(FARSA):c.947T>C (p.Leu316Pro)not specified [RCV004915762]uncertain significance191292498312924983Humanname
597695419CV3672139single nucleotide variantNM_004461.3(FARSA):c.839G>A (p.Arg280Gln)not specified [RCV004915766]uncertain significance191292834412928344Humanname
598271498CV3966119single nucleotide variantNM_004461.3(FARSA):c.868A>G (p.Met290Val)not specified [RCV005327757]uncertain significance191292514812925148Humanname
598213162CV3966120single nucleotide variantNM_004461.3(FARSA):c.388G>A (p.Asp130Asn)not specified [RCV005339210]uncertain significance191293033812930338Humanname
598213167CV3966121single nucleotide variantNM_004461.3(FARSA):c.434G>T (p.Gly145Val)not specified [RCV005339211]uncertain significance191293029212930292Humanname
598213172CV3966122single nucleotide variantNM_004461.3(FARSA):c.892C>T (p.Arg298Trp)not specified [RCV005339212]uncertain significance191292512412925124Humanname
598213183CV3966124single nucleotide variantNM_004461.3(FARSA):c.706C>G (p.Gln236Glu)not specified [RCV005339214]uncertain significance191292855412928554Humanname
39457098CV965772single nucleotide variantNM_004461.3(FARSA):c.766T>C (p.Phe256Leu)Rajab interstitial lung disease with brain calcifications 2 [RCV001255421]pathogenic191292841712928417Human1name
155796486CV1860119single nucleotide variantNM_004461.3(FARSA):c.1211G>A (p.Arg404His)Rajab interstitial lung disease with brain calcifications 2 [RCV002466387]uncertain significance191292451112924511Human1name
155981420CV2244076single nucleotide variantNM_004461.3(FARSA):c.1325T>C (p.Met442Thr)not specified [RCV004108552]uncertain significance191292421412924214Humanname
401735185CV2690806single nucleotide variantNM_004461.3(FARSA):c.1034T>C (p.Phe345Ser)not specified [RCV004298517]uncertain significance191292480012924800Humanname
405280628CV3195604single nucleotide variantNM_004461.3(FARSA):c.1126G>T (p.Val376Leu)FARSA-related disorder [RCV003906845]benign191292470812924708Humanname , trait , alternate_id
405274850CV3199740single nucleotide variantNM_004461.3(FARSA):c.1022A>G (p.Gln341Arg)FARSA-related disorder [RCV003973809]benign191292490812924908Human1name , trait , alternate_id
405274850CV3199740single nucleotide variantNM_004461.3(FARSA):c.1022A>G (p.Gln341Arg)FARSA-related disorder [RCV003973809]benign191292490812924909Human1name , trait , alternate_id
405283854CV3213376single nucleotide variantNM_004461.3(FARSA):c.1412T>C (p.Ile471Thr)FARSA-related disorder [RCV003921964]benign191292286312922863Humanname , trait , alternate_id
405653653CV3227919single nucleotide variantNM_004461.3(FARSA):c.1040C>T (p.Pro347Leu)Rajab interstitial lung disease with brain calcifications 2 [RCV003994661]likely pathogenic191292479412924794Human1name
405763140CV3253110single nucleotide variantNM_004461.3(FARSA):c.1018G>C (p.Ala340Pro)not specified [RCV004383826]uncertain significance191292491212924912Humanname
405763152CV3253112single nucleotide variantNM_004461.3(FARSA):c.1513C>G (p.Gln505Glu)not specified [RCV004383828]uncertain significance191292276212922762Humanname
407492639CV3432140single nucleotide variantNM_004461.3(FARSA):c.1057A>G (p.Ile353Val)not specified [RCV004620838]uncertain significance191292477712924777Humanname
407492643CV3432141single nucleotide variantNM_004461.3(FARSA):c.1007T>C (p.Leu336Pro)not specified [RCV004620839]uncertain significance191292492312924923Humanname
597695389CV3672136single nucleotide variantNM_004461.3(FARSA):c.1004C>T (p.Ala335Val)not specified [RCV004915763]uncertain significance191292492612924926Humanname
597695410CV3672138single nucleotide variantNM_004461.3(FARSA):c.1403A>G (p.Lys468Arg)not specified [RCV004915765]uncertain significance191292287212922872Humanname
598213179CV3966123single nucleotide variantNM_004461.3(FARSA):c.1519G>T (p.Ala507Ser)not specified [RCV005339213]uncertain significance191292275612922756Humanname
598213188CV3966125single nucleotide variantNM_004461.3(FARSA):c.1264T>G (p.Tyr422Asp)not specified [RCV005339215]uncertain significance191292445812924458Humanname
28885944CV860505single nucleotide variantNM_004461.3(FARSA):c.1012C>T (p.Arg338Cys)FARSA-related disorder [RCV003945804]|not provided [RCV001091774]|not specified [RCV004031978]likely benign|uncertain significance191292491812924918Human1name , trait , alternate_id
39457099CV965773single nucleotide variantNM_004461.3(FARSA):c.1230C>A (p.Asn410Lys)Rajab interstitial lung disease with brain calcifications 2 [RCV001255422]pathogenic191292449212924492Human1name