NF1 c.5990G>A ;(p.W1997*)

Variant ID: 17-29662033-G-A

NM_001042492.2(NF1):c.5990G>A;(p.W1997*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genomic landscape of the immunogenicity regulation in skin melanomas with diverse tumor mutation burden.

Frontiers In Immunology
Georgoulias, George G; Zaravinos, Apostolos A
Publication Date: 2022

Variant appearance in text: NF1: W1997*
PubMed Link: 36389735
Variant Present in the following documents:
  • Table_7.xlsx, sheet 10
View BVdb publication page



IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.

Acta Neuropathologica Communications
Barresi, Valeria V; Simbolo, Michele M; Mafficini, Andrea A; Martini, Maurizio M; Calicchia, Martina M; Piredda, Maria Liliana ML; Ciaparrone, Chiara C; Bonizzato, Giada G; Ammendola, Serena S; Caffo, Maria M; Pinna, Giampietro G; Sala, Francesco F; Lawlor, Rita Teresa RT; Ghimenton, Claudio C; Scarpa, Aldo A
Publication Date: 2021-12-24

Variant appearance in text: NF1: 5990G>A; rs974012306
PubMed Link: 34952640
Variant Present in the following documents:
  • 40478_2021_1304_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.

Acta Neuropathologica Communications
Barresi, Valeria V; Simbolo, Michele M; Mafficini, Andrea A; Martini, Maurizio M; Calicchia, Martina M; Piredda, Maria Liliana ML; Ciaparrone, Chiara C; Bonizzato, Giada G; Ammendola, Serena S; Caffo, Maria M; Pinna, Giampietro G; Sala, Francesco F; Lawlor, Rita Teresa RT; Ghimenton, Claudio C; Scarpa, Aldo A
Publication Date: 2021-12-24

Variant appearance in text: NF1: 5990G>A; rs974012306
PubMed Link: 34952640
Variant Present in the following documents:
  • 40478_2021_1304_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Genomic and Transcriptomic Characteristics According to Size of Papillary Thyroid Microcarcinoma.

Cancers
Song, Young Shin YS; Kang, Byung-Hee BH; Lee, Seungbok S; Yoo, Seong-Keun SK; Choi, Young Sik YS; Park, Jungsun J; Park, Dong Yoon DY; Lee, Kyu Eun KE; Seo, Jeong-Sun JS; Park, Young Joo YJ
Publication Date: 2020-05-25

Variant appearance in text: NF1: W1997*
PubMed Link: 32466217
Variant Present in the following documents:
  • Main text
  • cancers-12-01345.pdf
View BVdb publication page