NF1 c.3113+1G>C

Variant ID: 17-29557401-G-C

NM_001042492.2(NF1):c.3113+1G>C

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Survival and NF1 Analysis in a Cohort of Orthopedics Patients with Malignant Peripheral Nerve Sheath Tumors.

Sarcoma
Knewitz, Daniel K DK; Anderson, Colin J CJ; Presley, William T WT; Horodyski, MaryBeth M; Scarborough, Mark T MT; Wallace, Margaret R MR
Publication Date: 2021

Variant appearance in text: NF1: 3113+1G>C
PubMed Link: 34646065
Variant Present in the following documents:
  • sarcoma2021-9386823.pdf
View BVdb publication page



Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1.

Orphanet Journal Of Rare Diseases
Assunto, Antonia A; Ferrara, Ursula U; De Luca, Alessandro A; Pivonello, Claudia C; Lombardo, Lisa L; Piscitelli, Annapina A; Tortora, Cristina C; Pinna, Valentina V; Daniele, Paola P; Pivonello, Rosario R; Russo, Maria Giovanna MG; Limongelli, Giuseppe G; Colao, Annamaria A; Tartaglia, Marco M; Strisciuglio, Pietro P; Melis, Daniela D
Publication Date: 2019-11-15

Variant appearance in text: NF1: 3113+1G>C
PubMed Link: 31730495
Variant Present in the following documents:
View BVdb publication page



Genetic Analyses of the NF1 Gene in Turkish Neurofibromatosis Type I Patients and Definition of three Novel Variants.

Balkan Journal Of Medical Genetics : Bjmg
Ulusal, S D SD; Gürkan, H H; Atlı, E E; Özal, S A SA; Çiftdemir, M M; Tozkır, H H; Karal, Y Y; Güçlü, H H; Eker, D D; Görker, I I
Publication Date: 2017-06-30

Variant appearance in text: NF1: 3113+1G>C
PubMed Link: 28924536
Variant Present in the following documents:
  • Main text
  • bjmg-20-013.pdf
View BVdb publication page



Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association.

Cancer Research
Brems, Hilde H; Park, Caroline C; Maertens, Ophélia O; Pemov, Alexander A; Messiaen, Ludwine L; Messia, Ludwine L; Upadhyaya, Meena M; Claes, Kathleen K; Beert, Eline E; Peeters, Kristel K; Mautner, Victor V; Sloan, Jennifer L JL; Yao, Lawrence L; Lee, Chyi-Chia Richard CC; Sciot, Raf R; De Smet, Luc L; Legius, Eric E; Stewart, Douglas R DR
Publication Date: 2009-09-15

Variant appearance in text: NF1: 3113+1G>C
PubMed Link: 19738042
Variant Present in the following documents:
  • Main text
View BVdb publication page