CDH1 c.2647T>C ;(p.*883Qext*29)

Variant ID: 16-68867400-T-C

NM_004360.3(CDH1):c.2647T>C;(p.*883Qext*29)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


CDKN2A loss-of-function predicts immunotherapy resistance in non-small cell lung cancer.

Scientific Reports
Gutiontov, Stanley I SI; Turchan, William Tyler WT; Spurr, Liam F LF; Rouhani, Sherin J SJ; Chervin, Carolina Soto CS; Steinhardt, George G; Lager, Angela M AM; Wanjari, Pankhuri P; Malik, Renuka R; Connell, Philip P PP; Chmura, Steven J SJ; Juloori, Aditya A; Hoffman, Philip C PC; Ferguson, Mark K MK; Donington, Jessica S JS; Patel, Jyoti D JD; Vokes, Everett E EE; Weichselbaum, Ralph R RR; Bestvina, Christine M CM; Segal, Jeremy P JP; Pitroda, Sean P SP
Publication Date: 2021-10-08

Variant appearance in text: CDH1: 2647T>C
PubMed Link: 34625620
Variant Present in the following documents:
  • 41598_2021_99524_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.

Human Mutation
Lee, Kristy K; Krempely, Kate K; Roberts, Maegan E ME; Anderson, Michael J MJ; Carneiro, Fatima F; Chao, Elizabeth E; Dixon, Katherine K; Figueiredo, Joana J; Ghosh, Rajarshi R; Huntsman, David D; Kaurah, Pardeep P; Kesserwan, Chimene C; Landrith, Tyler T; Li, Shuwei S; Mensenkamp, Arjen R AR; Oliveira, Carla C; Pardo, Carolina C; Pesaran, Tina T; Richardson, Matthew M; Slavin, Thomas P TP; Spurdle, Amanda B AB; Trapp, Mackenzie M; Witkowski, Leora L; Yi, Charles S CS; Zhang, Liying L; Plon, Sharon E SE; Schrader, Kasmintan A KA; Karam, Rachid R
Publication Date: 2018-11

Variant appearance in text: CDH1: 2647T>C
PubMed Link: 30311375
Variant Present in the following documents:
  • Main text
View BVdb publication page