NF1 c.1545G>A ;(p.G515=)

Variant ID: 17-29546040-G-A

NM_001042492.2(NF1):c.1545G>A;(p.G515=)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


An adaptive method of defining negative mutation status for multi-sample comparison using next-generation sequencing.

Bmc Medical Genomics
Hutson, Nicholas N; Zhan, Fenglin F; Graham, James J; Murakami, Mitsuko M; Zhang, Han H; Ganaparti, Sujana S; Hu, Qiang Q; Yan, Li L; Ma, Changxing C; Liu, Song S; Xie, Jun J; Wei, Lei L
Publication Date: 2021-12-02

Variant appearance in text: NF1: G515G
PubMed Link: 34856988
Variant Present in the following documents:
  • 12920_2021_880_MOESM1_ESM.xls, sheet 1
View BVdb publication page



An adaptive method of defining negative mutation status for multi-sample comparison using next-generation sequencing.

Bmc Medical Genomics
Hutson, Nicholas N; Zhan, Fenglin F; Graham, James J; Murakami, Mitsuko M; Zhang, Han H; Ganaparti, Sujana S; Hu, Qiang Q; Yan, Li L; Ma, Changxing C; Liu, Song S; Xie, Jun J; Wei, Lei L
Publication Date: 2021-12-02

Variant appearance in text: NF1: G515G
PubMed Link: 34856988
Variant Present in the following documents:
  • 12920_2021_880_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications
Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M
Publication Date: 2018-10-04

Variant appearance in text: N/A
PubMed Link: 30287823
Variant Present in the following documents:
View BVdb publication page



Genetic and transcriptional evolution alters cancer cell line drug response.

Nature
Ben-David, Uri U; Siranosian, Benjamin B; Ha, Gavin G; Tang, Helen H; Oren, Yaara Y; Hinohara, Kunihiko K; Strathdee, Craig A CA; Dempster, Joshua J; Lyons, Nicholas J NJ; Burns, Robert R; Nag, Anwesha A; Kugener, Guillaume G; Cimini, Beth B; Tsvetkov, Peter P; Maruvka, Yosef E YE; O'Rourke, Ryan R; Garrity, Anthony A; Tubelli, Andrew A AA; Bandopadhayay, Pratiti P; Tsherniak, Aviad A; Vazquez, Francisca F; Wong, Bang B; Birger, Chet C; Ghandi, Mahmoud M; Thorner, Aaron R AR; Bittker, Joshua A JA; Meyerson, Matthew M; Getz, Gad G; Beroukhim, Rameen R; Golub, Todd R TR
Publication Date: 2018-08

Variant appearance in text: NF1: 1545G>A
PubMed Link: 30089904
Variant Present in the following documents:
  • NIHMS977514-supplement-Sup_Table_10.xlsx, sheet 1
  • NIHMS977514-supplement-Sup_Table_23.xlsx, sheet 1
View BVdb publication page



Mutation profiles of synchronous colorectal cancers from a patient with Lynch syndrome suggest distinct oncogenic pathways.

Journal Of Gastrointestinal Oncology
Wheeler, Scott R SR; Shi, Chanjuan C; Holt, Jonathan A JA; Vnencak-Jones, Cindy L CL
Publication Date: 2016-06

Variant appearance in text: NF1: 1545G>A
PubMed Link: 27284491
Variant Present in the following documents:
  • Main text
View BVdb publication page