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Variants search result for Homo sapiens
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44 records found for search term Gtf2a1l
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
155902794CV2274761single nucleotide variantNM_006872.5(GTF2A1L):c.8G>C (p.Cys3Ser)not specified [RCV004139116]uncertain significance24861788248617882Humanname
405717956CV3255450single nucleotide variantNM_006872.5(GTF2A1L):c.46G>C (p.Glu16Gln)not specified [RCV004388407]uncertain significance24862087548620875Humanname
405718055CV3255460single nucleotide variantNM_006872.5(GTF2A1L):c.68G>A (p.Arg23Gln)not specified [RCV004388417]uncertain significance24862089748620897Humanname
8630380CV85535single nucleotide variantNM_001198593.1(STON1-GTF2A1L):c.2415+1G>AMalignant melanoma [RCV000065618]not provided24864245848642458Humanname
405717885CV3255443single nucleotide variantNM_006872.5(GTF2A1L):c.173G>A (p.Arg58Lys)not specified [RCV004388400]uncertain significance24862121648621216Humanname
405717896CV3255444single nucleotide variantNM_006872.5(GTF2A1L):c.222G>C (p.Leu74Phe)not specified [RCV004388401]uncertain significance24862126548621265Humanname
401747490CV2692599single nucleotide variantNM_006872.5(GTF2A1L):c.914G>A (p.Gly305Glu)not specified [RCV004312335]uncertain significance24864697848646978Humanname
405717906CV3255445single nucleotide variantNM_006872.5(GTF2A1L):c.393C>G (p.His131Gln)not specified [RCV004388402]uncertain significance24864645748646457Humanname
405717914CV3255446single nucleotide variantNM_006872.5(GTF2A1L):c.407A>G (p.Asn136Ser)not specified [RCV004388403]uncertain significance24864647148646471Humanname
405717931CV3255447single nucleotide variantNM_006872.5(GTF2A1L):c.407A>T (p.Asn136Ile)not specified [RCV004388404]uncertain significance24864647148646471Humanname
405717941CV3255448single nucleotide variantNM_006872.5(GTF2A1L):c.448A>G (p.Ile150Val)not specified [RCV004388405]uncertain significance24864651248646512Humanname
405717947CV3255449single nucleotide variantNM_006872.5(GTF2A1L):c.461C>T (p.Pro154Leu)not specified [RCV004388406]uncertain significance24864652548646525Humanname
405717966CV3255451single nucleotide variantNM_006872.5(GTF2A1L):c.547A>G (p.Thr183Ala)not specified [RCV004388408]uncertain significance24864661148646611Humanname
405717977CV3255452single nucleotide variantNM_006872.5(GTF2A1L):c.584A>G (p.Gln195Arg)not specified [RCV004388409]uncertain significance24864664848646648Humanname
405717985CV3255453single nucleotide variantNM_006872.5(GTF2A1L):c.587A>C (p.Gln196Pro)not specified [RCV004388410]uncertain significance24864665148646651Humanname
405718000CV3255454single nucleotide variantNM_006872.5(GTF2A1L):c.592G>A (p.Ala198Thr)not specified [RCV004388411]likely benign24864665648646656Humanname
405718010CV3255455single nucleotide variantNM_006872.5(GTF2A1L):c.593C>T (p.Ala198Val)not specified [RCV004388412]uncertain significance24864665748646657Humanname
405718018CV3255456single nucleotide variantNM_006872.5(GTF2A1L):c.611C>T (p.Pro204Leu)not specified [RCV004388413]uncertain significance24864667548646675Humanname
405718028CV3255457single nucleotide variantNM_006872.5(GTF2A1L):c.653T>C (p.Leu218Pro)not specified [RCV004388414]uncertain significance24864671748646717Humanname
405718036CV3255458single nucleotide variantNM_006872.5(GTF2A1L):c.659C>T (p.Ser220Phe)not specified [RCV004388415]uncertain significance24864672348646723Humanname
405718046CV3255459single nucleotide variantNM_006872.5(GTF2A1L):c.667A>G (p.Asn223Asp)not specified [RCV004388416]uncertain significance24864673148646731Humanname
405718063CV3255461single nucleotide variantNM_006872.5(GTF2A1L):c.707A>G (p.Gln236Arg)not specified [RCV004388418]uncertain significance24864677148646771Humanname
405718073CV3255462single nucleotide variantNM_006872.5(GTF2A1L):c.809T>G (p.Met270Arg)not specified [RCV004388419]uncertain significance24864687348646873Humanname
405718089CV3255463single nucleotide variantNM_006872.5(GTF2A1L):c.812C>G (p.Ala271Gly)not specified [RCV004388420]uncertain significance24864687648646876Humanname
405718099CV3255464single nucleotide variantNM_006872.5(GTF2A1L):c.816A>C (p.Gln272His)not specified [RCV004388421]uncertain significance24864688048646880Humanname
405718109CV3255465single nucleotide variantNM_006872.5(GTF2A1L):c.899A>G (p.Lys300Arg)not specified [RCV004388422]uncertain significance24864696348646963Humanname
8577227CV111601single nucleotide variantNM_001198593.1(STON1-GTF2A1L):c.2360-6991G>ALung cancer [RCV000092124]uncertain significance24863541148635411Humanname
405717845CV3255439single nucleotide variantNM_006872.5(GTF2A1L):c.1217C>A (p.Pro406His)not specified [RCV004388396]uncertain significance24866996048669960Humanname
405717854CV3255440single nucleotide variantNM_006872.5(GTF2A1L):c.1230T>G (p.Ile410Met)not specified [RCV004388397]uncertain significance24866997348669973Humanname
405717867CV3255441single nucleotide variantNM_006872.5(GTF2A1L):c.1319A>G (p.Gln440Arg)not specified [RCV004388398]uncertain significance24867167048671670Humanname
405717877CV3255442single nucleotide variantNM_006872.5(GTF2A1L):c.1337G>T (p.Arg446Leu)not specified [RCV004388399]uncertain significance24867934248679342Humanname
405717802CV3259269single nucleotide variantNM_006872.5(GTF2A1L):c.1012G>A (p.Val338Ile)not specified [RCV004388391]uncertain significance24866975548669755Humanname
405717811CV3259270single nucleotide variantNM_006872.5(GTF2A1L):c.1055G>A (p.Ser352Asn)not specified [RCV004388392]uncertain significance24866979848669798Humanname
405717820CV3259271single nucleotide variantNM_006872.5(GTF2A1L):c.1073A>G (p.Asn358Ser)not specified [RCV004388393]uncertain significance24866981648669816Humanname
405717829CV3259272single nucleotide variantNM_006872.5(GTF2A1L):c.1089T>G (p.Ser363Arg)not specified [RCV004388394]uncertain significance24866983248669832Humanname
405717835CV3259273single nucleotide variantNM_006872.5(GTF2A1L):c.1107G>T (p.Glu369Asp)not specified [RCV004388395]uncertain significance24866985048669850Humanname
405294075CV3203409single nucleotide variantNM_001198593.2(STON1-GTF2A1L):c.3442-20603G>ASTON1-GTF2A1L-related disorder [RCV003933953]likely benign24875567748755677Humanname , trait , alternate_id
8630377CV85532single nucleotide variantNM_172311.2(STON1-GTF2A1L):c.1044G>A (p.Lys348=)Malignant melanoma [RCV000065615]not provided24858167748581677Humanname
8625380CV80503single nucleotide variantNM_001198593.1(STON1-GTF2A1L):c.82C>T (p.Pro28Ser)Malignant melanoma [RCV000060580]not provided24858071548580715Humanname
407488390CV3485587single nucleotide variantNM_001198593.2(STON1-GTF2A1L):c.2782G>A (p.Glu928Lys)not specified [RCV004681696]uncertain significance24864673448646734Humanname
597757958CV3614984single nucleotide variantNM_001198593.2(STON1-GTF2A1L):c.1547G>A (p.Arg516His)not specified [RCV004868707]uncertain significance24858218048582180Humanname
8630378CV85533single nucleotide variantNM_001198593.1(STON1-GTF2A1L):c.1759C>T (p.Leu587Phe)Malignant melanoma [RCV000065616]not provided24858239248582392Humanname
8630379CV85534single nucleotide variantNM_001198593.1(STON1-GTF2A1L):c.1928C>T (p.Ser643Leu)Malignant melanoma [RCV000065617]not provided24858256148582561Humanname
8630381CV85536single nucleotide variantNM_001198593.1(STON1-GTF2A1L):c.2732G>A (p.Arg911Lys)Malignant melanoma [RCV000065619]not provided24864668448646684Humanname