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30 records found for search term Art4
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
8566370CV32770single nucleotide variantNM_021071.4(ART4):c.145-2A>GBlood group, Dombrock system [RCV000019305]pathogenic|affects121484115514841155Humanname
8566372CV32772single nucleotide variantNM_021071.4(ART4):c.144+2T>CBlood group, Dombrock system [RCV000019307]pathogenic|affects121484296814842968Humanname
8634598CV89818single nucleotide variantNM_021071.2(ART4):c.63G>A (p.Thr21=)Malignant melanoma [RCV000069915]not provided121484305114843051Humanname
405284705CV3197040single nucleotide variantNM_021071.4(ART4):c.624C>T (p.Leu208=)ART4-related disorder [RCV003979881]benign121484067414840674Humanname , trait , alternate_id
405280203CV3200630single nucleotide variantNM_021071.4(ART4):c.378T>C (p.Tyr126=)ART4-related disorder [RCV003977254]benign121484092014840920Humanname , trait , alternate_id
405664921CV3286569single nucleotide variantNM_021071.4(ART4):c.73T>C (p.Trp25Arg)not specified [RCV004418307]uncertain significance121484304114843041Humanname
597776146CV3586528single nucleotide variantNM_021071.4(ART4):c.58G>T (p.Ala20Ser)not specified [RCV004852437]uncertain significance121484305614843056Humanname
329401868CV2457958single nucleotide variantNM_021071.4(ART4):c.251C>T (p.Thr84Ile)not specified [RCV004271538]uncertain significance121484104714841047Humanname
405664905CV3286566single nucleotide variantNM_021071.4(ART4):c.164T>C (p.Phe55Ser)not specified [RCV004418304]uncertain significance121484113414841134Humanname
405664911CV3286567single nucleotide variantNM_021071.4(ART4):c.166G>A (p.Asp56Asn)not specified [RCV004418305]uncertain significance121484113214841132Humanname
407462017CV3480325single nucleotide variantNM_021071.4(ART4):c.160G>A (p.Asp54Asn)not specified [RCV004658919]uncertain significance121484113814841138Humanname
597776120CV3586517single nucleotide variantNM_021071.4(ART4):c.194A>G (p.Gln65Arg)not specified [RCV004852431]uncertain significance121484110414841104Humanname
597776198CV3586557single nucleotide variantNM_021071.4(ART4):c.145G>A (p.Val49Ile)not specified [RCV004852452]uncertain significance121484115314841153Humanname
598255637CV3909010single nucleotide variantNM_021071.4(ART4):c.288G>A (p.Met96Ile)not specified [RCV005259938]uncertain significance121484101014841010Humanname
598255726CV3909031single nucleotide variantNM_021071.4(ART4):c.101T>C (p.Leu34Pro)not specified [RCV005259959]uncertain significance121484301314843013Humanname
156401634CV2207507single nucleotide variantNM_021071.4(ART4):c.706G>A (p.Val236Ile)not specified [RCV004089978]uncertain significance121484059214840592Humanname
401723667CV2675035single nucleotide variantNM_021071.4(ART4):c.814A>G (p.Thr272Ala)not specified [RCV004296336]likely benign121484048414840484Humanname
401884429CV2762888single nucleotide variantNM_021071.4(ART4):c.871A>C (p.Ile291Leu)not specified [RCV004342253]uncertain significance121482944514829445Humanname
401895882CV2779495single nucleotide variantNM_021071.4(ART4):c.512G>C (p.Arg171Thr)not specified [RCV004351120]uncertain significance121484078614840786Humanname
405288276CV3197243single nucleotide variantNM_021071.4(ART4):c.898C>G (p.Leu300Val)ART4-related disorder [RCV003982339]benign121482941814829418Humanname , trait , alternate_id
8566369CV32769single nucleotide variantNM_021071.4(ART4):c.793G>A (p.Asp265Asn)ART4-related disorder [RCV003974843]|Blood group, Dombrock system [RCV000019304]pathogenic|affects|benign121484050514840505Humanname , trait , alternate_id
8566373CV32773single nucleotide variantNM_021071.4(ART4):c.442C>T (p.Gln148Ter)Blood group, Dombrock system [RCV000019308]pathogenic|affects121484085614840856Humanname
405664916CV3286568single nucleotide variantNM_021071.4(ART4):c.479A>G (p.His160Arg)not specified [RCV004418306]uncertain significance121484081914840819Humanname
407491630CV3480335single nucleotide variantNM_021071.4(ART4):c.739A>T (p.Ile247Phe)not specified [RCV004666938]uncertain significance121484055914840559Humanname
407462059CV3480347single nucleotide variantNM_021071.4(ART4):c.914G>A (p.Ser305Asn)not specified [RCV004658933]uncertain significance121482940214829402Humanname
597776167CV3586537single nucleotide variantNM_021071.4(ART4):c.628A>G (p.Thr210Ala)not specified [RCV004852442]uncertain significance121484067014840670Humanname
597776184CV3586546single nucleotide variantNM_021071.4(ART4):c.673C>G (p.Leu225Val)not specified [RCV004852447]uncertain significance121484062514840625Humanname
598255592CV3909000single nucleotide variantNM_021071.4(ART4):c.352A>G (p.Thr118Ala)not specified [RCV005259928]uncertain significance121484094614840946Humanname
598255681CV3909021single nucleotide variantNM_021071.4(ART4):c.308C>T (p.Ala103Val)not specified [RCV005259949]uncertain significance121484099014840990Humanname
8566371CV32771deletionNM_021071.4(ART4):c.343_350del (p.Met115fs)Blood group, Dombrock system [RCV000019306]pathogenic|affects121484094814840955Humanname