SMARCA4 c.2302C>T ;(p.L768=)

Variant ID: 19-11123652-C-T

NM_003072.3(SMARCA4):c.2302C>T;(p.L768=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Paired comparisons of mutational profiles before and after brachytherapy in asian uveal melanoma patients.

Scientific Reports
Lee, Woo Seung WS; Lee, Junwon J; Choi, Jun Jeong JJ; Kang, Hyun Goo HG; Lee, Sung Chul SC; Kim, Ju Han JH
Publication Date: 2021-09-20

Variant appearance in text: SMARCA4: L768L
PubMed Link: 34545149
Variant Present in the following documents:
  • 41598_2021_98084_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.

Pediatric Research
Ziats, Mark N MN; Ahmad, Ayesha A; Bernat, John A JA; Fisher, Rachel R; Glassford, Megan M; Hannibal, Mark C MC; Jacher, Joseph E JE; Weiser, Natasha N; Keegan, Catherine E CE; Lee, Kristen N KN; Marzulla, Tessa B TB; O'Connor, Bridget C BC; Quinonez, Shane C SC; Seemann, Lauren L; Turner, Lauren L; Bielas, Stephanie S; Harris, Nicholas L NL; Ogle, Jacob D JD; Innis, Jeffrey W JW; Martin, Donna M DM
Publication Date: 2020-03

Variant appearance in text: SMARCA4: 2302C>T
PubMed Link: 31618753
Variant Present in the following documents:
  • NIHMS1541080-supplement-Supp_Tables_1-2.xlsx, sheet 1
View BVdb publication page