PMC:6037202 / 35123-36330 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/6037202","sourcedb":"PMC","sourceid":"6037202","source_url":"https://www.ncbi.nlm.nih.gov/pmc/6037202","text":"Gene Chr Predicted Start Predicted End Algorithm(s) Predicted Consequence after IGV Review Phenotype (Age at Diagnosis) Genes Tested by Clinical Services Year Consulted\nFLCN 17 1,7136,696 (Manta), 1,7137,867 (Canvas) 17,134,310 (Manta), 17,134,474 (Canvas) Canvas and Manta deletion of exon 2 breast (46 years) and pulmonary lymphangioleiomyomatosis (47 years) information unavailable unknown\nPTEN 10 89,719,837 89,713,996 Manta inversion of exon 7 breast (45 years)a BRCA1 and BRCA2 (single gene) unknown\nSMAD4 9 and 18 chr9: 127,732,713 chr18: 48,556,624 Manta translocation with breakpoint within untranslated part of exon 1 CNS (42 years) and colorectal (56 years) in mother PMS2, TP53, and MLH1 (single gene) 2011\nTSC1 9 135,807,261 135,803,187 Manta duplication of exon 3 testicular (47 years), prostate (64 years), and lung (70 years) BRCA1 and BRCA2 (single-gene Ashkenazi common mutations) 2016\nTSC2 16 2,119,769 1,566,500 Manta inversion with breakpoint in introns 16 and 17 small bowel (42 years) and colorectal (43 years) MSH6 (single gene; IHC also revealed MSH6 loss) 2012\nFH 1 242,310,908 237,244,834 Canvas full-gene deletion multiple cutaneous leiomyomata (\u003c55 years)a FH (single gene) 2014","divisions":[{"label":"tr","span":{"begin":0,"end":168}},{"label":"th","span":{"begin":0,"end":4}},{"label":"th","span":{"begin":5,"end":8}},{"label":"th","span":{"begin":9,"end":24}},{"label":"th","span":{"begin":25,"end":38}},{"label":"th","span":{"begin":39,"end":51}},{"label":"th","span":{"begin":52,"end":90}},{"label":"th","span":{"begin":91,"end":119}},{"label":"th","span":{"begin":120,"end":153}},{"label":"th","span":{"begin":154,"end":168}},{"label":"tr","span":{"begin":169,"end":392}},{"label":"td","span":{"begin":169,"end":173}},{"label":"td","span":{"begin":174,"end":176}},{"label":"td","span":{"begin":177,"end":216}},{"label":"td","span":{"begin":217,"end":256}},{"label":"td","span":{"begin":257,"end":273}},{"label":"td","span":{"begin":274,"end":292}},{"label":"td","span":{"begin":293,"end":360}},{"label":"td","span":{"begin":361,"end":384}},{"label":"td","span":{"begin":385,"end":392}},{"label":"tr","span":{"begin":393,"end":505}},{"label":"td","span":{"begin":393,"end":397}},{"label":"td","span":{"begin":398,"end":400}},{"label":"td","span":{"begin":401,"end":411}},{"label":"td","span":{"begin":412,"end":422}},{"label":"td","span":{"begin":423,"end":428}},{"label":"td","span":{"begin":429,"end":448}},{"label":"td","span":{"begin":449,"end":467}},{"label":"td","span":{"begin":468,"end":497}},{"label":"td","span":{"begin":498,"end":505}},{"label":"tr","span":{"begin":506,"end":718}},{"label":"td","span":{"begin":506,"end":511}},{"label":"td","span":{"begin":512,"end":520}},{"label":"td","span":{"begin":521,"end":538}},{"label":"td","span":{"begin":539,"end":556}},{"label":"td","span":{"begin":557,"end":562}},{"label":"td","span":{"begin":563,"end":627}},{"label":"td","span":{"begin":628,"end":678}},{"label":"td","span":{"begin":679,"end":713}},{"label":"td","span":{"begin":714,"end":718}},{"label":"tr","span":{"begin":719,"end":903}},{"label":"td","span":{"begin":719,"end":723}},{"label":"td","span":{"begin":724,"end":725}},{"label":"td","span":{"begin":726,"end":737}},{"label":"td","span":{"begin":738,"end":749}},{"label":"td","span":{"begin":750,"end":755}},{"label":"td","span":{"begin":756,"end":777}},{"label":"td","span":{"begin":778,"end":841}},{"label":"td","span":{"begin":842,"end":898}},{"label":"td","span":{"begin":899,"end":903}},{"label":"tr","span":{"begin":904,"end":1086}},{"label":"td","span":{"begin":904,"end":908}},{"label":"td","span":{"begin":909,"end":911}},{"label":"td","span":{"begin":912,"end":921}},{"label":"td","span":{"begin":922,"end":931}},{"label":"td","span":{"begin":932,"end":937}},{"label":"td","span":{"begin":938,"end":984}},{"label":"td","span":{"begin":985,"end":1033}},{"label":"td","span":{"begin":1034,"end":1081}},{"label":"td","span":{"begin":1082,"end":1086}},{"label":"td","span":{"begin":1087,"end":1089}},{"label":"td","span":{"begin":1090,"end":1091}},{"label":"td","span":{"begin":1092,"end":1103}},{"label":"td","span":{"begin":1104,"end":1115}},{"label":"td","span":{"begin":1116,"end":1122}},{"label":"td","span":{"begin":1123,"end":1141}},{"label":"td","span":{"begin":1142,"end":1185}},{"label":"td","span":{"begin":1186,"end":1202}}],"tracks":[]}