NF1 c.281T>C ;(p.L94P)

Variant ID: 17-29486104-T-C

NM_001042492.2(NF1):c.281T>C;(p.L94P)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications
Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A
Publication Date: 2021-04-14

Variant appearance in text: NF1: L94P
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9
View BVdb publication page



Clinical Presentation and Novel Pathogenic Variants among 68 Chinese Neurofibromatosis 1 Children.

Genes
Yao, Ruen R; Yu, Tingting T; Xu, Yufei Y; Yu, Li L; Wang, Jiwen J; Wang, Xiumin X; Wang, Jian J; Shen, Yiping Y
Publication Date: 2019-10-26

Variant appearance in text: NF1: 281T>C; L94P
PubMed Link: 31717729
Variant Present in the following documents:
  • Main text
  • genes-10-00847.pdf
View BVdb publication page



NF1 mutations are recurrent in adult acute myeloid leukemia and confer poor outcome.

Leukemia
Eisfeld, Ann-Kathrin AK; Kohlschmidt, Jessica J; Mrózek, Krzysztof K; Mims, Alice A; Walker, Christopher J CJ; Blachly, James S JS; Nicolet, Deedra D; Orwick, Shelley S; Maharry, Sophia E SE; Carroll, Andrew J AJ; Powell, Bayard L BL; Kolitz, Jonathan E JE; Wang, Eunice S ES; Stone, Richard M RM; de la Chapelle, Albert A; Byrd, John C JC; Bloomfield, Clara D CD
Publication Date: 2018-12

Variant appearance in text: NF1: L94P
PubMed Link: 29872168
Variant Present in the following documents:
  • NIHMS959885-supplement-1.pdf
View BVdb publication page