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33 records found for search term Tbpl2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
401776150CV2692616single nucleotide variantNM_199047.3(TBPL2):c.-20C>Gnot specified [RCV004312348]uncertain significance145544046955440469Humanname
405791405CV3335470single nucleotide variantNM_199047.3(TBPL2):c.-50C>Gnot specified [RCV004474232]likely benign145544049955440499Humanname
405791408CV3335471single nucleotide variantNM_199047.3(TBPL2):c.-38C>Tnot specified [RCV004474233]likely benign145544048755440487Humanname
401892294CV2776053single nucleotide variantNM_199047.3(TBPL2):c.8A>G (p.Gln3Arg)not specified [RCV004353159]uncertain significance145544044255440442Humanname
156084366CV2289700single nucleotide variantNM_199047.3(TBPL2):c.32A>G (p.Tyr11Cys)not specified [RCV004150397]uncertain significance145544041855440418Humanname
401929860CV2810438single nucleotide variantNM_199047.3(TBPL2):c.768C>T (p.Leu256=)not provided [RCV003390403]benign145542889955428899Humanname
597762209CV3619286single nucleotide variantNM_199047.3(TBPL2):c.39C>G (p.Asp13Glu)not specified [RCV004869584]uncertain significance145544041155440411Humanname
15172160CV725701single nucleotide variantNM_199047.3(TBPL2):c.852G>A (p.Gln284=)not provided [RCV000883787]benign145542881555428815Humanname
156181305CV2255079single nucleotide variantNM_199047.3(TBPL2):c.287A>C (p.Gln96Pro)not specified [RCV004115714]uncertain significance145543678655436786Humanname
156339929CV2351677single nucleotide variantNM_199047.3(TBPL2):c.134C>T (p.Pro45Leu)not specified [RCV004195386]uncertain significance145543693955436939Humanname
329354388CV2448086single nucleotide variantNM_199047.3(TBPL2):c.142G>A (p.Ala48Thr)not specified [RCV004263309]uncertain significance145543693155436931Humanname
598208690CV3913023single nucleotide variantNM_199047.3(TBPL2):c.173C>G (p.Thr58Arg)not specified [RCV005291540]uncertain significance145543690055436900Humanname
598208694CV3913024single nucleotide variantNM_199047.3(TBPL2):c.173C>T (p.Thr58Ile)not specified [RCV005291541]uncertain significance145543690055436900Humanname
156254346CV2325624single nucleotide variantNM_199047.3(TBPL2):c.730C>T (p.Arg244Cys)not specified [RCV004180039]uncertain significance145542893755428937Humanname
156360301CV2328453single nucleotide variantNM_199047.3(TBPL2):c.319G>A (p.Glu107Lys)not specified [RCV004175548]uncertain significance145543675455436754Humanname
156046221CV2381772single nucleotide variantNM_199047.3(TBPL2):c.898A>G (p.Met300Val)not specified [RCV004232221]uncertain significance145542421655424216Humanname
329356170CV2442489single nucleotide variantNM_199047.3(TBPL2):c.631G>A (p.Glu211Lys)not specified [RCV004266729]uncertain significance145543369155433691Humanname
401720830CV2702138single nucleotide variantNM_199047.3(TBPL2):c.632A>G (p.Glu211Gly)not specified [RCV004314492]uncertain significance145543369055433690Humanname
401759809CV2707155single nucleotide variantNM_199047.3(TBPL2):c.967C>T (p.Arg323Cys)not specified [RCV004315519]uncertain significance145541444455414444Humanname
401762160CV2714036single nucleotide variantNM_199047.3(TBPL2):c.862T>C (p.Tyr288His)not specified [RCV004315440]uncertain significance145542425255424252Humanname
405791400CV3335468single nucleotide variantNM_199047.3(TBPL2):c.953C>T (p.Thr318Ile)not specified [RCV004474230]uncertain significance145542416155424161Humanname
405791403CV3335469single nucleotide variantNM_199047.3(TBPL2):c.345C>G (p.Asn115Lys)not specified [RCV004474231]uncertain significance145543672855436728Humanname
405791410CV3335472single nucleotide variantNM_199047.3(TBPL2):c.547T>G (p.Leu183Val)not specified [RCV004474234]uncertain significance145543590055435900Humanname
405791485CV3335473single nucleotide variantNM_199047.3(TBPL2):c.734T>C (p.Val245Ala)not specified [RCV004474235]uncertain significance145542893355428933Humanname
405791487CV3335474single nucleotide variantNM_199047.3(TBPL2):c.757G>C (p.Ala253Pro)not specified [RCV004474236]uncertain significance145542891055428910Humanname
405791490CV3335475single nucleotide variantNM_199047.3(TBPL2):c.809G>C (p.Arg270Thr)not specified [RCV004474237]uncertain significance145542885855428858Humanname
407512713CV3485713single nucleotide variantNM_199047.3(TBPL2):c.899T>C (p.Met300Thr)not specified [RCV004673526]uncertain significance145542421555424215Humanname
597762201CV3619283single nucleotide variantNM_199047.3(TBPL2):c.466C>A (p.Pro156Thr)not specified [RCV004869582]uncertain significance145543660755436607Humanname
597762206CV3619284single nucleotide variantNM_199047.3(TBPL2):c.754C>T (p.Pro252Ser)not specified [RCV004869583]uncertain significance145542891355428913Humanname
597794866CV3619285single nucleotide variantNM_199047.3(TBPL2):c.564A>G (p.Ile188Met)not specified [RCV004878001]uncertain significance145543588355435883Humanname
598163277CV3913025single nucleotide variantNM_199047.3(TBPL2):c.689A>G (p.Lys230Arg)not specified [RCV005283086]uncertain significance145543363355433633Humanname
598208699CV3913026single nucleotide variantNM_199047.3(TBPL2):c.781C>A (p.Gln261Lys)not specified [RCV005291542]uncertain significance145542888655428886Humanname
598163284CV3913027single nucleotide variantNM_199047.3(TBPL2):c.758C>A (p.Ala253Asp)not specified [RCV005283087]uncertain significance145542890955428909Humanname