CHD1L c.2410C>T ;(p.Q804*)

Variant ID: 1-146765310-C-T

NM_004284.4(CHD1L):c.2410C>T;(p.Q804*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30

Variant appearance in text: CHD1L: Q804X; rs149664186
PubMed Link: 30380422
Variant Present in the following documents:
  • NIHMS1511993-supplement-6.xlsx, sheet 1
View BVdb publication page



Sequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics
Kim, Daniel Seung DS; Burt, Amber A AA; Ranchalis, Jane E JE; Wilmot, Beth B; Smith, Joshua D JD; Patterson, Karynne E KE; Coe, Bradley P BP; Li, Yatong K YK; Bamshad, Michael J MJ; Nikolas, Molly M; Eichler, Evan E EE; Swanson, James M JM; Nigg, Joel T JT; Nickerson, Deborah A DA; Jarvik, Gail P GP; ,
Publication Date: 2017-06

Variant appearance in text: rs149664186
PubMed Link: 28332277
Variant Present in the following documents:
  • Main text
View BVdb publication page