OMIM@xiajingbo:102560-12-ACTG1 JSONTXT

{"project":"26-nlpxiaoxiaodui","denotations":[{"id":"T1","span":{"begin":160,"end":165},"obj":"Gene"},{"id":"T2","span":{"begin":226,"end":231},"obj":"Var"}],"text":"In an individual with Baraitser-Winter syndrome-2 (BRWS2; 614583), Riviere et al. (2012) identified a heterozygous C-to-A transversion at nucleotide 608 of the ACTG1 gene, resulting in an thr-to-lys substitution at codon 203 (T203K). This mutation occurred de novo in the patient and was not observed in 203 other exomes sequenced."}

{"project":"CHIP2022-Reference","denotations":[{"id":"T1","span":{"begin":122,"end":134},"obj":"Var"},{"id":"T2","span":{"begin":156,"end":170},"obj":"Gene"},{"id":"T3","span":{"begin":172,"end":184},"obj":"Reg"},{"id":"T4","span":{"begin":199,"end":211},"obj":"Var"},{"id":"T5","span":{"begin":239,"end":247},"obj":"Var"}],"relations":[{"id":"R1","pred":"ThemeOf","subj":"T2","obj":"T1"},{"id":"R2","pred":"CauseOf","subj":"T1","obj":"T3"},{"id":"R3","pred":"ThemeOf","subj":"T4","obj":"T3"}],"text":"In an individual with Baraitser-Winter syndrome-2 (BRWS2; 614583), Riviere et al. (2012) identified a heterozygous C-to-A transversion at nucleotide 608 of the ACTG1 gene, resulting in an thr-to-lys substitution at codon 203 (T203K). This mutation occurred de novo in the patient and was not observed in 203 other exomes sequenced."}

{"project":"26-WinHealth377","denotations":[{"id":"T0","span":{"begin":226,"end":231},"obj":"Var"},{"id":"T1","span":{"begin":172,"end":184},"obj":"Reg"},{"id":"T2","span":{"begin":160,"end":165},"obj":"Gene"},{"id":"T3","span":{"begin":115,"end":134},"obj":"Var"}],"relations":[{"id":"R0","pred":"ThemeOf","subj":"T0","obj":"T1"},{"id":"R1","pred":"ThemeOf","subj":"T2","obj":"T0"},{"id":"R2","pred":"ThemeOf","subj":"T2","obj":"T3"},{"id":"R4","pred":"CauseOf","subj":"T3","obj":"T1"}],"text":"In an individual with Baraitser-Winter syndrome-2 (BRWS2; 614583), Riviere et al. (2012) identified a heterozygous C-to-A transversion at nucleotide 608 of the ACTG1 gene, resulting in an thr-to-lys substitution at codon 203 (T203K). This mutation occurred de novo in the patient and was not observed in 203 other exomes sequenced."}

{"project":"26-Forward377","denotations":[{"id":"T1","span":{"begin":22,"end":49},"obj":"Disease"},{"id":"T2","span":{"begin":160,"end":165},"obj":"Gene"},{"id":"T3","span":{"begin":172,"end":184},"obj":"Reg"},{"id":"T4","span":{"begin":226,"end":231},"obj":"Var"}],"text":"In an individual with Baraitser-Winter syndrome-2 (BRWS2; 614583), Riviere et al. (2012) identified a heterozygous C-to-A transversion at nucleotide 608 of the ACTG1 gene, resulting in an thr-to-lys substitution at codon 203 (T203K). This mutation occurred de novo in the patient and was not observed in 203 other exomes sequenced."}

{"project":"26-WinHealth377-task1","denotations":[{"id":"T0","span":{"begin":160,"end":165},"obj":"Gene"},{"id":"T1","span":{"begin":172,"end":184},"obj":"Reg"},{"id":"T3","span":{"begin":22,"end":49},"obj":"Disease"},{"id":"T4","span":{"begin":226,"end":231},"obj":"Var"}],"text":"In an individual with Baraitser-Winter syndrome-2 (BRWS2; 614583), Riviere et al. (2012) identified a heterozygous C-to-A transversion at nucleotide 608 of the ACTG1 gene, resulting in an thr-to-lys substitution at codon 203 (T203K). This mutation occurred de novo in the patient and was not observed in 203 other exomes sequenced."}

{"project":"27-YLab-377","denotations":[{"id":"T2","span":{"begin":122,"end":134},"obj":"Var"},{"id":"T3","span":{"begin":160,"end":165},"obj":"Gene"},{"id":"T4","span":{"begin":172,"end":184},"obj":"Reg"}],"text":"In an individual with Baraitser-Winter syndrome-2 (BRWS2; 614583), Riviere et al. (2012) identified a heterozygous C-to-A transversion at nucleotide 608 of the ACTG1 gene, resulting in an thr-to-lys substitution at codon 203 (T203K). This mutation occurred de novo in the patient and was not observed in 203 other exomes sequenced."}

{"project":"27-nlpxiaoxiaodui-377","denotations":[{"id":"T1","span":{"begin":149,"end":152},"obj":"Var"},{"id":"T2","span":{"begin":160,"end":165},"obj":"Gene"},{"id":"T3","span":{"begin":226,"end":231},"obj":"Gene"}],"text":"In an individual with Baraitser-Winter syndrome-2 (BRWS2; 614583), Riviere et al. (2012) identified a heterozygous C-to-A transversion at nucleotide 608 of the ACTG1 gene, resulting in an thr-to-lys substitution at codon 203 (T203K). This mutation occurred de novo in the patient and was not observed in 203 other exomes sequenced."}

{"project":"27-Forward-377","denotations":[{"id":"T1","span":{"begin":22,"end":49},"obj":"Disease"},{"id":"T2","span":{"begin":160,"end":165},"obj":"Gene"},{"id":"T3","span":{"begin":172,"end":184},"obj":"Reg"},{"id":"T4","span":{"begin":226,"end":231},"obj":"Var"},{"id":"T5","span":{"begin":239,"end":247},"obj":"Var"},{"id":"T6","span":{"begin":239,"end":247},"obj":"Var"}],"text":"In an individual with Baraitser-Winter syndrome-2 (BRWS2; 614583), Riviere et al. (2012) identified a heterozygous C-to-A transversion at nucleotide 608 of the ACTG1 gene, resulting in an thr-to-lys substitution at codon 203 (T203K). This mutation occurred de novo in the patient and was not observed in 203 other exomes sequenced."}

{"project":"27-WinHealth-377","denotations":[{"id":"T0","span":{"begin":172,"end":184},"obj":"Reg"},{"id":"T1","span":{"begin":160,"end":165},"obj":"Gene"},{"id":"T2","span":{"begin":22,"end":49},"obj":"Disease"},{"id":"T3","span":{"begin":226,"end":231},"obj":"Var"}],"text":"In an individual with Baraitser-Winter syndrome-2 (BRWS2; 614583), Riviere et al. (2012) identified a heterozygous C-to-A transversion at nucleotide 608 of the ACTG1 gene, resulting in an thr-to-lys substitution at codon 203 (T203K). This mutation occurred de novo in the patient and was not observed in 203 other exomes sequenced."}

{"project":"27-test001-377","denotations":[{"id":"T0","span":{"begin":115,"end":121},"obj":"Disease"},{"id":"T1","span":{"begin":122,"end":134},"obj":"Disease"},{"id":"T2","span":{"begin":166,"end":171},"obj":"Reg"}],"text":"In an individual with Baraitser-Winter syndrome-2 (BRWS2; 614583), Riviere et al. (2012) identified a heterozygous C-to-A transversion at nucleotide 608 of the ACTG1 gene, resulting in an thr-to-lys substitution at codon 203 (T203K). This mutation occurred de novo in the patient and was not observed in 203 other exomes sequenced."}

{"project":"28-nlpxiaoxiaodui-377","denotations":[{"id":"T1","span":{"begin":39,"end":49},"obj":"Disease"},{"id":"T2","span":{"begin":160,"end":165},"obj":"Gene"},{"id":"T3","span":{"begin":188,"end":191},"obj":"Gene"}],"text":"In an individual with Baraitser-Winter syndrome-2 (BRWS2; 614583), Riviere et al. (2012) identified a heterozygous C-to-A transversion at nucleotide 608 of the ACTG1 gene, resulting in an thr-to-lys substitution at codon 203 (T203K). This mutation occurred de novo in the patient and was not observed in 203 other exomes sequenced."}

{"project":"28-shencangblue-377","denotations":[{"id":"T1","span":{"begin":160,"end":165},"obj":"Gene"},{"id":"T2","span":{"begin":172,"end":184},"obj":"Reg"},{"id":"T3","span":{"begin":188,"end":198},"obj":"Var"},{"id":"T4","span":{"begin":197,"end":206},"obj":"Var"},{"id":"T5","span":{"begin":205,"end":210},"obj":"Gene"},{"id":"T6","span":{"begin":209,"end":221},"obj":"Reg"},{"id":"T7","span":{"begin":220,"end":230},"obj":"Var"},{"id":"T8","span":{"begin":229,"end":238},"obj":"Var"}],"text":"In an individual with Baraitser-Winter syndrome-2 (BRWS2; 614583), Riviere et al. (2012) identified a heterozygous C-to-A transversion at nucleotide 608 of the ACTG1 gene, resulting in an thr-to-lys substitution at codon 203 (T203K). This mutation occurred de novo in the patient and was not observed in 203 other exomes sequenced."}

{"project":"28-Forward-task1-377","denotations":[{"id":"T1","span":{"begin":22,"end":49},"obj":"Disease"},{"id":"T2","span":{"begin":160,"end":165},"obj":"Gene"},{"id":"T3","span":{"begin":172,"end":184},"obj":"Reg"},{"id":"T4","span":{"begin":226,"end":231},"obj":"Var"}],"text":"In an individual with Baraitser-Winter syndrome-2 (BRWS2; 614583), Riviere et al. (2012) identified a heterozygous C-to-A transversion at nucleotide 608 of the ACTG1 gene, resulting in an thr-to-lys substitution at codon 203 (T203K). This mutation occurred de novo in the patient and was not observed in 203 other exomes sequenced."}

{"project":"28-Forward-task2-377","denotations":[{"id":"T1","span":{"begin":22,"end":49},"obj":"Disease"},{"id":"T2","span":{"begin":160,"end":165},"obj":"Gene"},{"id":"T3","span":{"begin":172,"end":184},"obj":"Reg"},{"id":"T4","span":{"begin":226,"end":231},"obj":"Var"}],"relations":[{"id":"R1","pred":"CauseOf","subj":"T3","obj":"T1"},{"id":"R2","pred":"CauseOf","subj":"T3","obj":"T4"},{"id":"R3","pred":"ThemeOf","subj":"T2","obj":"T4"}],"text":"In an individual with Baraitser-Winter syndrome-2 (BRWS2; 614583), Riviere et al. (2012) identified a heterozygous C-to-A transversion at nucleotide 608 of the ACTG1 gene, resulting in an thr-to-lys substitution at codon 203 (T203K). This mutation occurred de novo in the patient and was not observed in 203 other exomes sequenced."}

{"project":"28-WinHealth-task1-377","denotations":[{"id":"T0","span":{"begin":160,"end":165},"obj":"Gene"},{"id":"T1","span":{"begin":172,"end":184},"obj":"Reg"},{"id":"T2","span":{"begin":226,"end":231},"obj":"Var"},{"id":"T3","span":{"begin":22,"end":49},"obj":"Disease"},{"id":"T4","span":{"begin":115,"end":134},"obj":"Var"}],"text":"In an individual with Baraitser-Winter syndrome-2 (BRWS2; 614583), Riviere et al. (2012) identified a heterozygous C-to-A transversion at nucleotide 608 of the ACTG1 gene, resulting in an thr-to-lys substitution at codon 203 (T203K). This mutation occurred de novo in the patient and was not observed in 203 other exomes sequenced."}

{"project":"28-WinHealth-task2-377","denotations":[{"id":"T0","span":{"begin":226,"end":231},"obj":"Var"},{"id":"T1","span":{"begin":172,"end":184},"obj":"Reg"},{"id":"T2","span":{"begin":160,"end":165},"obj":"Gene"},{"id":"T3","span":{"begin":115,"end":134},"obj":"Var"}],"relations":[{"id":"R0","pred":"ThemeOf","subj":"T0","obj":"T1"},{"id":"R1","pred":"ThemeOf","subj":"T2","obj":"T0"},{"id":"R2","pred":"ThemeOf","subj":"T2","obj":"T3"},{"id":"R4","pred":"CauseOf","subj":"T3","obj":"T1"}],"text":"In an individual with Baraitser-Winter syndrome-2 (BRWS2; 614583), Riviere et al. (2012) identified a heterozygous C-to-A transversion at nucleotide 608 of the ACTG1 gene, resulting in an thr-to-lys substitution at codon 203 (T203K). This mutation occurred de novo in the patient and was not observed in 203 other exomes sequenced."}

{"project":"29-shencangblue-task1-377","denotations":[{"id":"T1","span":{"begin":160,"end":165},"obj":"Gene"},{"id":"T2","span":{"begin":172,"end":184},"obj":"Reg"},{"id":"T3","span":{"begin":188,"end":198},"obj":"Var"},{"id":"T4","span":{"begin":197,"end":206},"obj":"Var"},{"id":"T5","span":{"begin":205,"end":210},"obj":"Gene"},{"id":"T6","span":{"begin":209,"end":221},"obj":"Reg"},{"id":"T7","span":{"begin":220,"end":230},"obj":"Var"},{"id":"T8","span":{"begin":229,"end":238},"obj":"Var"}],"text":"In an individual with Baraitser-Winter syndrome-2 (BRWS2; 614583), Riviere et al. (2012) identified a heterozygous C-to-A transversion at nucleotide 608 of the ACTG1 gene, resulting in an thr-to-lys substitution at codon 203 (T203K). This mutation occurred de novo in the patient and was not observed in 203 other exomes sequenced."}

{"project":"AGAC_v3","denotations":[{"id":"T3","span":{"begin":172,"end":184},"obj":"Regulation"},{"id":"T5","span":{"begin":239,"end":247},"obj":"Variation"},{"id":"T4","span":{"begin":199,"end":211},"obj":"Variation"},{"id":"T2","span":{"begin":156,"end":170},"obj":"Gene"},{"id":"T1","span":{"begin":122,"end":134},"obj":"Variation"}],"relations":[{"id":"R3","pred":"ThemeOf","subj":"T4","obj":"T3"},{"id":"R2","pred":"CauseOf","subj":"T1","obj":"T3"},{"id":"R1","pred":"ThemeOf","subj":"T2","obj":"T1"}],"text":"In an individual with Baraitser-Winter syndrome-2 (BRWS2; 614583), Riviere et al. (2012) identified a heterozygous C-to-A transversion at nucleotide 608 of the ACTG1 gene, resulting in an thr-to-lys substitution at codon 203 (T203K). This mutation occurred de novo in the patient and was not observed in 203 other exomes sequenced."}

{"project":"AGAC-2-2","denotations":[{"id":"T1","span":{"begin":102,"end":152},"obj":"Var"},{"id":"T2","span":{"begin":160,"end":165},"obj":"Gene"},{"id":"T3","span":{"begin":172,"end":184},"obj":"Reg"},{"id":"T4","span":{"begin":188,"end":232},"obj":"Var"}],"relations":[{"id":"R1","pred":"ThemeOf","subj":"T2","obj":"T1"},{"id":"R3","pred":"CauseOf","subj":"T1","obj":"T3"},{"id":"R2","pred":"ThemeOf","subj":"T4","obj":"T3"}],"text":"In an individual with Baraitser-Winter syndrome-2 (BRWS2; 614583), Riviere et al. (2012) identified a heterozygous C-to-A transversion at nucleotide 608 of the ACTG1 gene, resulting in an thr-to-lys substitution at codon 203 (T203K). This mutation occurred de novo in the patient and was not observed in 203 other exomes sequenced."}

{"project":"AGAC_RAW_20181204","denotations":[{"id":"T1","span":{"begin":122,"end":134},"obj":"Variation"},{"id":"T2","span":{"begin":156,"end":170},"obj":"Gene"},{"id":"T3","span":{"begin":172,"end":184},"obj":"Regulation"},{"id":"T4","span":{"begin":199,"end":211},"obj":"Variation"},{"id":"T5","span":{"begin":239,"end":247},"obj":"Variation"}],"relations":[{"id":"R1","pred":"ThemeOf","subj":"T2","obj":"T1"},{"id":"R2","pred":"CauseOf","subj":"T1","obj":"T3"},{"id":"R3","pred":"ThemeOf","subj":"T4","obj":"T3"}],"text":"In an individual with Baraitser-Winter syndrome-2 (BRWS2; 614583), Riviere et al. (2012) identified a heterozygous C-to-A transversion at nucleotide 608 of the ACTG1 gene, resulting in an thr-to-lys substitution at codon 203 (T203K). This mutation occurred de novo in the patient and was not observed in 203 other exomes sequenced."}

{"project":"AGAC-2-1","denotations":[{"id":"T2","span":{"begin":160,"end":165},"obj":"Gene"},{"id":"T4","span":{"begin":172,"end":184},"obj":"Reg"},{"id":"T1","span":{"begin":100,"end":152},"obj":"Var"},{"id":"T3","span":{"begin":188,"end":224},"obj":"Var"}],"relations":[{"id":"R1","pred":"ThemeOf","subj":"T2","obj":"T1"},{"id":"R2","pred":"CauseOf","subj":"T1","obj":"T4"},{"id":"R3","pred":"ThemeOf","subj":"T3","obj":"T4"}],"text":"In an individual with Baraitser-Winter syndrome-2 (BRWS2; 614583), Riviere et al. (2012) identified a heterozygous C-to-A transversion at nucleotide 608 of the ACTG1 gene, resulting in an thr-to-lys substitution at codon 203 (T203K). This mutation occurred de novo in the patient and was not observed in 203 other exomes sequenced."}