ALK c.1186C>T ;(p.P396S)

Variant ID: 2-29606694-G-A

NM_004304.4(ALK):c.1186C>T;(p.P396S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review.

Italian Journal Of Pediatrics
Zhang, Ying Y; Nie, Yanyan Y; Mu, Yu Y; Zheng, Jie J; Xu, Xiaowei X; Zhang, Fang F; Shu, Jianbo J; Liu, Yang Y
Publication Date: 2022-05-12

Variant appearance in text: ALK: 1186C>T; P396S
PubMed Link: 35550617
Variant Present in the following documents:
  • 13052_2022_Article_1248.pdf
View BVdb publication page



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: ALK: 1186C>T; Pro396Ser
PubMed Link: 29641532
Variant Present in the following documents:
  • pone.0194098.s003.xlsx, sheet 1
View BVdb publication page