NF1 c.157T>C ;(p.L53=)

Variant ID: 17-29483097-T-C

NM_001042492.2(NF1):c.157T>C;(p.L53=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.

Nucleic Acids Research
Lai, Zhongwu Z; Markovets, Aleksandra A; Ahdesmaki, Miika M; Chapman, Brad B; Hofmann, Oliver O; McEwen, Robert R; Johnson, Justin J; Dougherty, Brian B; Barrett, J Carl JC; Dry, Jonathan R JR
Publication Date: 2016-06-20

Variant appearance in text: NF1: 157T>C
PubMed Link: 27060149
Variant Present in the following documents:
  • supp_gkw227_nar-03544-met-k-2015-File003.xls, sheet 2
View BVdb publication page



Splice site and Germline variations of the MGMT gene in Esophageal cancer from Kashmir Valley: India.

International Journal Of Health Sciences
Shah, Mohd Amin MA; Shaffi, Sheikh M SM; Lone, Ghulam Nabi GN; Jan, Syed Mudassar SM
Publication Date: 2013-11

Variant appearance in text: NF1: L53L
PubMed Link: 24533020
Variant Present in the following documents:
  • Main text
View BVdb publication page