RET c.1393C>T ;(p.L465=)

Variant ID: 10-43606784-C-T

NM_020975.4(RET):c.1393C>T;(p.L465=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One
Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK
Publication Date: 2018

Variant appearance in text: RET: 1393C>T; Leu465Phe
PubMed Link: 29641532
Variant Present in the following documents:
  • pone.0194098.s003.xlsx, sheet 2
View BVdb publication page



RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.

Plos One
So, Man-Ting MT; Leon, Thomas Yuk-Yu TY; Cheng, Guo G; Tang, Clara Sze-Man CS; Miao, Xiao-Ping XP; Cornes, Belinda K BK; Diem, Ngoc Ngo NN; Cui, Long L; Ngan, Elly Sau-Wai ES; Lui, Vincent Chai-Hang VC; Wu, Xuan-Zhao XZ; Wang, Bin B; Wang, Hualong H; Yuan, Zheng-Wei ZW; Huang, Liu-Ming LM; Li, Long L; Xia, Huimin H; Zhu, Deli D; Liu, Juncheng J; Nguyen, Thanh Liem TL; Chan, Ivy Hau-Yee IH; Chung, Patrick Ho-Yu PH; Liu, Xue-Lai XL; Zhang, Ruizhong R; Wong, Kenneth Kak-Yuen KK; Sham, Pak-Chung PC; Cherny, Stacey S SS; Tam, Paul Kwong-Hang PK; Garcia-Barcelo, Maria-Mercè MM
Publication Date: 2011

Variant appearance in text: RET: L465L
PubMed Link: 22174939
Variant Present in the following documents:
  • Main text
  • pone.0028986.pdf
View BVdb publication page