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Pathways
Variants search result for Homo sapiens
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27 records found for search term Ap1s3
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
150492694CV1275033single nucleotide variantNM_001039569.2(AP1S3):c.3+8C>AAP1S3-related disorder [RCV003956333]|not provided [RCV001702016]likely benign2223837440223837440Human1name , trait , alternate_id
405274581CV3208927deletionNM_001039569.2(AP1S3):c.4-7delAP1S3-related disorder [RCV003951707]likely benign2223777876223777876Humanname , trait , alternate_id
405278745CV3216774single nucleotide variantNM_001039569.2(AP1S3):c.3+9G>CAP1S3-related disorder [RCV003954646]likely benign2223837439223837439Humanname , trait , alternate_id
402477244CV2849477single nucleotide variantNM_001039569.1(AP1S3):c.-138C>Gnot specified [RCV003490334]benign2223837588223837588Humanname
401907091CV2795727duplicationNM_001039569.2(AP1S3):c.429+78dupnot specified [RCV003397079]benign2223765134223765135Humanname
401907200CV2795808single nucleotide variantNM_001039569.2(AP1S3):c.183-137G>Anot specified [RCV003397160]benign2223776146223776146Humanname
404987880CV2849504single nucleotide variantNM_001039569.2(AP1S3):c.183-170A>Gnot specified [RCV003490361]benign2223776179223776179Humanname
401906970CV2795705single nucleotide variantNM_001039569.2(AP1S3):c.291+2651T>Cnot specified [RCV003397057]benign2223773250223773250Humanname
596947657CV3547237single nucleotide variantNM_001039569.2(AP1S3):c.292-4861C>Tnot provided [RCV004811541]likely benign2223770211223770211Humanname
401931216CV2795676microsatelliteNM_001039569.2(AP1S3):c.429+33ATG[9]not specified [RCV003391238]benign2223765159223765160Humanname
401906799CV2795718microsatelliteNM_001039569.2(AP1S3):c.429+33ATG[8]not specified [RCV003397070]benign2223765159223765160Humanname
404983117CV2849239duplicationNM_001039569.2(AP1S3):c.429+51_429+56dupnot specified [RCV003489111]benign2223765156223765157Humanname
9684595CV170220single nucleotide variantNM_001039569.2(AP1S3):c.11T>G (p.Phe4Cys)AP1S3-related disorder [RCV003982906]|Psoriasis 15, pustular, susceptibility to [RCV000148043]|not provided [RCV002262755]risk factor|benign|likely benign|not provided2223777862223777862Human1name , trait , alternate_id
405266416CV3201985single nucleotide variantNM_001039569.2(AP1S3):c.267G>A (p.Glu89=)AP1S3-related disorder [RCV003911469]likely benign2223775925223775925Humanname , trait , alternate_id
405278838CV3212702single nucleotide variantNM_001039569.2(AP1S3):c.240G>A (p.Thr80=)AP1S3-related disorder [RCV003954728]likely benign2223775952223775952Humanname , trait , alternate_id
150410842CV1195924single nucleotide variantNM_001039569.2(AP1S3):c.95C>T (p.Thr32Ile)not provided [RCV001573338]likely benign2223777778223777778Humanname
150547050CV1291849single nucleotide variantNM_001039569.2(AP1S3):c.64A>G (p.Thr22Ala)AP1S3-related disorder [RCV003931311]|Psoriasis 15, pustular, susceptibility to [RCV001733531]|not provided [RCV003438869]likely benign2223777809223777809Human1name , trait , alternate_id
9684844CV170219single nucleotide variantNM_001039569.2(AP1S3):c.97C>T (p.Arg33Trp)AP1S3-related disorder [RCV003927448]|Psoriasis 15, pustular, susceptibility to [RCV000148042]|not provided [RCV002262754]|not specified [RCV000454575]risk factor|benign|likely benign|not provided2223777776223777776Human1name , trait , alternate_id
401906909CV2795744insertionNM_001039569.2(AP1S3):c.183-78_183-77insTTnot specified [RCV003397096]benign2223776086223776087Humanname
404988650CV2849619single nucleotide variantNM_001039569.2(AP1S3):c.28C>T (p.Arg10Ter)not provided [RCV003490471]uncertain significance2223777845223777845Humanname
8630200CV85347single nucleotide variantNM_001039569.1(AP1S3):c.339C>T (p.Ile113=)Malignant melanoma [RCV000065429]not provided2223765303223765303Humanname
150547046CV1291848single nucleotide variantNM_001039569.2(AP1S3):c.248T>C (p.Ile83Thr)Psoriasis 15, pustular, susceptibility to [RCV001733530]|not provided [RCV004711711]benign|likely benign2223775944223775944Human1name
405295207CV3211165single nucleotide variantNM_001039569.2(AP1S3):c.235T>G (p.Leu79Val)AP1S3-related disorder [RCV003937151]benign2223775957223775957Humanname , trait , alternate_id
405697689CV3279011single nucleotide variantNM_001039569.2(AP1S3):c.190A>G (p.Ser64Gly)not specified [RCV004424832]uncertain significance2223776002223776002Humanname
597650169CV3558684single nucleotide variantNM_001039569.2(AP1S3):c.216A>C (p.Glu72Asp)not specified [RCV004826745]uncertain significance2223775976223775976Humanname
597650261CV3558694single nucleotide variantNM_001039569.2(AP1S3):c.256C>T (p.Arg86Cys)not specified [RCV004826755]uncertain significance2223775936223775936Humanname
156155626CV2393292single nucleotide variantNM_001039569.2(AP1S3):c.337A>C (p.Ile113Leu)not specified [RCV004228803]uncertain significance2223765305223765305Humanname