NF1 c.1005T>C ;(p.N335=)

Variant ID: 17-29527556-T-C

NM_001042492.2(NF1):c.1005T>C;(p.N335=)

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: N335=
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: NF1: 1005T>C; Asn335=
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Functional analysis of splicing mutations in exon 7 of NF1 gene.

Bmc Medical Genetics
Bottillo, Irene I; De Luca, Alessandro A; Schirinzi, Annalisa A; Guida, Valentina V; Torrente, Isabella I; Calvieri, Stefano S; Gervasini, Cristina C; Larizza, Lidia L; Pizzuti, Antonio A; Dallapiccola, Bruno B
Publication Date: 2007-02-12

Variant appearance in text: NF1: 1005T>C
PubMed Link: 17295913
Variant Present in the following documents:
  • Main text
  • 1471-2350-8-4.pdf
View BVdb publication page