Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Pathways
Variants search result for All species
(View Results for all Objects and Ontologies)


42 records found for search term Bbox1
Refine Term:
Sort By:
           Export CSV TAB Print

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
155908721CV2354732single nucleotide variantNM_003986.3(BBOX1):c.8G>C (p.Cys3Ser)not specified [RCV004202681]uncertain significance112705543827055438Humanname
598260581CV3931376single nucleotide variantNM_003986.3(BBOX1):c.16C>G (p.Gln6Glu)not specified [RCV005300455]uncertain significance112705544627055446Humanname
156265775CV2312260single nucleotide variantNM_003986.3(BBOX1):c.77A>C (p.Glu26Ala)not specified [RCV004166974]uncertain significance112705550727055507Humanname
405285134CV3202397single nucleotide variantNM_003986.3(BBOX1):c.960C>A (p.Leu320=)BBOX1-related disorder [RCV003909667]likely benign112712577727125777Humanname , trait , alternate_id
407495077CV3417559single nucleotide variantNM_003986.3(BBOX1):c.37G>A (p.Gly13Arg)not specified [RCV004605739]uncertain significance112705546727055467Humanname
407495081CV3417560single nucleotide variantNM_003986.3(BBOX1):c.41C>A (p.Ala14Asp)not specified [RCV004605740]uncertain significance112705547127055471Humanname
15101837CV701714single nucleotide variantNM_003986.3(BBOX1):c.930T>C (p.Phe310=)not provided [RCV000959171]benign112712574727125747Humanname
15117025CV712774single nucleotide variantNM_003986.3(BBOX1):c.621C>T (p.Ala207=)not provided [RCV000962133]benign112711553927115539Humanname
15195065CV752629single nucleotide variantNM_003986.3(BBOX1):c.399T>C (p.Tyr133=)not provided [RCV000911306]benign112709323227093232Humanname
156072396CV2233367single nucleotide variantNM_003986.3(BBOX1):c.151C>T (p.Arg51Trp)not specified [RCV004105732]uncertain significance112705558127055581Humanname
155969589CV2244598single nucleotide variantNM_003986.3(BBOX1):c.247T>A (p.Tyr83Asn)not specified [RCV004102322]uncertain significance112705722827057228Humanname
156183819CV2255384single nucleotide variantNM_003986.3(BBOX1):c.116C>T (p.Pro39Leu)not specified [RCV004117752]uncertain significance112705554627055546Humanname
155954933CV2274393single nucleotide variantNM_003986.3(BBOX1):c.241G>A (p.Glu81Lys)not specified [RCV004136768]uncertain significance112705722227057222Humanname
156259578CV2277842single nucleotide variantNM_003986.3(BBOX1):c.266A>T (p.Asp89Val)not specified [RCV004147262]uncertain significance112705724727057247Humanname
401872792CV2776223single nucleotide variantNM_003986.3(BBOX1):c.209A>T (p.Asp70Val)not specified [RCV004353592]uncertain significance112705563927055639Humanname
405705603CV3301601single nucleotide variantNM_003986.3(BBOX1):c.232T>A (p.Trp78Arg)not specified [RCV004426028]uncertain significance112705721327057213Humanname
598260515CV3931356single nucleotide variantNM_003986.3(BBOX1):c.242A>T (p.Glu81Val)not specified [RCV005300442]uncertain significance112705722327057223Humanname
156069995CV2232320single nucleotide variantNM_003986.3(BBOX1):c.981G>C (p.Lys327Asn)not specified [RCV004098960]uncertain significance112712579827125798Humanname
156148970CV2292871single nucleotide variantNM_003986.3(BBOX1):c.616C>G (p.Pro206Ala)not specified [RCV004148378]uncertain significance112711553427115534Humanname
155980146CV2336878single nucleotide variantNM_003986.3(BBOX1):c.363G>C (p.Gln121His)not specified [RCV004190496]uncertain significance112709319627093196Humanname
401741503CV2697563single nucleotide variantNM_003986.3(BBOX1):c.505A>C (p.Met169Leu)not specified [RCV004298319]uncertain significance112709333827093338Humanname
401765323CV2712645single nucleotide variantNM_003986.3(BBOX1):c.959T>G (p.Leu320Arg)not specified [RCV004307969]uncertain significance112712577627125776Humanname
401760300CV2718791single nucleotide variantNM_003986.3(BBOX1):c.346T>C (p.Trp116Arg)not specified [RCV004328537]uncertain significance112709317927093179Humanname
401855258CV2757220single nucleotide variantNM_003986.3(BBOX1):c.350G>T (p.Gly117Val)not specified [RCV004338818]uncertain significance112709318327093183Humanname
405705611CV3301602single nucleotide variantNM_003986.3(BBOX1):c.535C>T (p.His179Tyr)not specified [RCV004426029]uncertain significance112711545327115453Humanname
405705626CV3301604single nucleotide variantNM_003986.3(BBOX1):c.626A>G (p.His209Arg)not specified [RCV004426031]uncertain significance112711554427115544Humanname
405705634CV3301605single nucleotide variantNM_003986.3(BBOX1):c.743C>T (p.Ala248Val)not specified [RCV004426032]uncertain significance112711975227119752Humanname
405705648CV3301606single nucleotide variantNM_003986.3(BBOX1):c.770T>C (p.Val257Ala)not specified [RCV004426033]uncertain significance112711977927119779Humanname
405705653CV3301607single nucleotide variantNM_003986.3(BBOX1):c.841G>C (p.Asp281His)not specified [RCV004426034]uncertain significance112712565827125658Humanname
597759735CV3642936single nucleotide variantNM_003986.3(BBOX1):c.862C>T (p.Arg288Cys)not specified [RCV004894612]uncertain significance112712567927125679Humanname
597759738CV3642938single nucleotide variantNM_003986.3(BBOX1):c.910G>C (p.Val304Leu)not specified [RCV004894613]uncertain significance112712572727125727Humanname
597759743CV3642939single nucleotide variantNM_003986.3(BBOX1):c.680G>A (p.Gly227Asp)not specified [RCV004894614]uncertain significance112711968927119689Humanname
597759752CV3642941single nucleotide variantNM_003986.3(BBOX1):c.408C>A (p.His136Gln)not specified [RCV004894616]uncertain significance112709324127093241Humanname
597759757CV3642942single nucleotide variantNM_003986.3(BBOX1):c.562G>A (p.Asp188Asn)not specified [RCV004894617]uncertain significance112711548027115480Humanname
598247879CV3931316single nucleotide variantNM_003986.3(BBOX1):c.959T>A (p.Leu320His)not specified [RCV005297942]uncertain significance112712577627125776Humanname
598183816CV3931365single nucleotide variantNM_003986.3(BBOX1):c.581A>T (p.Tyr194Phe)not specified [RCV005311463]uncertain significance112711549927115499Humanname
156032830CV2214531single nucleotide variantNM_003986.3(BBOX1):c.1013T>A (p.Ile338Asn)not specified [RCV004088582]uncertain significance112712730227127302Humanname
156184433CV2239202single nucleotide variantNM_003986.3(BBOX1):c.1007A>T (p.Asp336Val)not specified [RCV004112182]uncertain significance112712729627127296Humanname
401738410CV2714448single nucleotide variantNM_003986.3(BBOX1):c.1157G>A (p.Gly386Glu)not specified [RCV004317975]uncertain significance112712744627127446Humanname
405705585CV3301599single nucleotide variantNM_003986.3(BBOX1):c.1043G>T (p.Gly348Val)not specified [RCV004426026]uncertain significance112712733227127332Humanname
597759748CV3642940single nucleotide variantNM_003986.3(BBOX1):c.1052G>A (p.Ser351Asn)not specified [RCV004894615]uncertain significance112712734127127341Humanname
598183779CV3931346single nucleotide variantNM_003986.3(BBOX1):c.1041T>A (p.His347Gln)not specified [RCV005311458]uncertain significance112712733027127330Humanname