NF1 c.324G>T ;(p.M108I)

Variant ID: 17-29490239-G-T

NM_001042492.2(NF1):c.324G>T;(p.M108I)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Journal Of Medical Genetics
Peng, Muyun M; Xie, Yuancai Y; Li, Xiaohua X; Qian, Youhui Y; Tu, Xiaonian X; Yao, Xumei X; Cheng, Fangsheng F; Xu, Feiyue F; Kong, Deju D; He, Bing B; Liu, Chaoyu C; Cao, Fengjun F; Yang, Haoxian H; Yu, Fenglei F; Xu, Chuanbo C; Tian, Geng G
Publication Date: 2019-10

Variant appearance in text: NF1: 324G>T; Met108Ile
PubMed Link: 30981987
Variant Present in the following documents:
  • jmedgenet-2018-105825supp002.xlsx, sheet 4
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Early loss of mitochondrial complex I and rewiring of glutathione metabolism in renal oncocytoma.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Gopal, Raj K RK; Calvo, Sarah E SE; Shih, Angela R AR; Chaves, Frances L FL; McGuone, Declan D; Mick, Eran E; Pierce, Kerry A KA; Li, Yang Y; Garofalo, Andrea A; Van Allen, Eliezer M EM; Clish, Clary B CB; Oliva, Esther E; Mootha, Vamsi K VK
Publication Date: 2018-07-03

Variant appearance in text: NF1: M108I
PubMed Link: 29915083
Variant Present in the following documents:
  • pnas.1711888115.sd01.xlsx, sheet 3
View BVdb publication page



Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas.

Nature Genetics
Krauthammer, Michael M; Kong, Yong Y; Bacchiocchi, Antonella A; Evans, Perry P; Pornputtapong, Natapol N; Wu, Cen C; McCusker, James P JP; Ma, Shuangge S; Cheng, Elaine E; Straub, Robert R; Serin, Merdan M; Bosenberg, Marcus M; Ariyan, Stephan S; Narayan, Deepak D; Sznol, Mario M; Kluger, Harriet M HM; Mane, Shrikant S; Schlessinger, Joseph J; Lifton, Richard P RP; Halaban, Ruth R
Publication Date: 2015-09

Variant appearance in text: NF1: Met108Ile
PubMed Link: 26214590
Variant Present in the following documents:
  • Main text
View BVdb publication page