NF1 c.3826_3827delinsGA ;(p.R1276E)

Variant ID: 17-29562746-CG-GA

NM_001042492.2(NF1):c.3826_3827delinsGA;(p.R1276E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Human Mutation
Koczkowska, Magdalena M; Callens, Tom T; Chen, Yunjia Y; Gomes, Alicia A; Hicks, Alesha D AD; Sharp, Angela A; Johns, Eric E; Uhas, Kim Armfield KA; Armstrong, Linlea L; Bosanko, Katherine Armstrong KA; Babovic-Vuksanovic, Dusica D; Baker, Laura L; Basel, Donald G DG; Bengala, Mario M; Bennett, James T JT; Chambers, Chelsea C; Clarkson, Lola K LK; Clementi, Maurizio M; Cortés, Fanny M FM; Cunningham, Mitch M; D'Agostino, M Daniela MD; Delatycki, Martin B MB; Digilio, Maria C MC; Dosa, Laura L; Esposito, Silvia S; Fox, Stephanie S; Freckmann, Mary-Louise ML; Fauth, Christine C; Giugliano, Teresa T; Giustini, Sandra S; Goetsch, Allison A; Goldberg, Yael Y; Greenwood, Robert S RS; Griffis, Cristin C; Gripp, Karen W KW; Gupta, Punita P; Haan, Eric E; Hachen, Rachel K RK; Haygarth, Tamara L TL; Hernández-Chico, Concepción C; Hodge, Katelyn K; Hopkin, Robert J RJ; Hudgins, Louanne L; Janssens, Sandra S; Keller, Kory K; Kelly-Mancuso, Geraldine G; Kochhar, Aaina A; Korf, Bruce R BR; Lewis, Andrea M AM; Liebelt, Jan J; Lichty, Angie A; Listernick, Robert H RH; Lyons, Michael J MJ; Maystadt, Isabelle I; Martinez Ojeda, Mayra M; McDougall, Carey C; McGregor, Lesley K LK; Melis, Daniela D; Mendelsohn, Nancy N; Nowaczyk, Malgorzata J M MJM; Ortenberg, June J; Panzer, Karin K; Pappas, John G JG; Pierpont, Mary Ella ME; Piluso, Giulio G; Pinna, Valentina V; Pivnick, Eniko K EK; Pond, Dinel A DA; Powell, Cynthia M CM; Rogers, Caleb C; Ruhrman Shahar, Noa N; Rutledge, S Lane SL; Saletti, Veronica V; Sandaradura, Sarah A SA; Santoro, Claudia C; Schatz, Ulrich A UA; Schreiber, Allison A; Scott, Daryl A DA; Sellars, Elizabeth A EA; Sheffer, Ruth R; Siqveland, Elizabeth E; Slopis, John M JM; Smith, Rosemarie R; Spalice, Alberto A; Stockton, David W DW; Streff, Haley H; Theos, Amy A; Tomlinson, Gail E GE; Tran, Grace G; Trapane, Pamela L PL; Trevisson, Eva E; Ullrich, Nicole J NJ; Van den Ende, Jenneke J; Schrier Vergano, Samantha A SA; Wallace, Stephanie E SE; Wangler, Michael F MF; Weaver, David D DD; Yohay, Kaleb H KH; Zackai, Elaine E; Zonana, Jonathan J; Zurcher, Vickie V; Claes, Kathleen B M KBM; Eoli, Marica M; Martin, Yolanda Y; Wimmer, Katharina K; De Luca, Alessandro A; Legius, Eric E; Messiaen, Ludwine M LM
Publication Date: 2020-01

Variant appearance in text: NF1: Arg1276Glu
PubMed Link: 31595648
Variant Present in the following documents:
  • Main text
  • HUMU-41-299-s005.pdf
  • HUMU-41-299.pdf
  • HUMU-41-299-s003.xlsx, sheet 1
View BVdb publication page



Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.

Human Genomics
Laycock-van Spyk, Sebastian S; Thomas, Nick N; Cooper, David N DN; Upadhyaya, Meena M
Publication Date: 2011-10

Variant appearance in text: NF1: Arg1276Glu
PubMed Link: 22155606
Variant Present in the following documents:
  • Main text
  • 1479-7364-5-6-623.pdf
View BVdb publication page