NF1 c.1396C>T ;(p.L466F)

Variant ID: 17-29541472-C-T

NM_001042492.2(NF1):c.1396C>T;(p.L466F)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: Leu466Phe
PubMed Link: 26214590
Variant Present in the following documents:
  • Main text
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