SMARCA4 c.2348T>G ;(p.L783R)

Variant ID: 19-11123698-T-G

NM_003072.3(SMARCA4):c.2348T>G;(p.L783R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Outcomes of Children and Adolescents with Advanced Hereditary Medullary Thyroid Carcinoma Treated with Vandetanib.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Kraft, Ira L IL; Akshintala, Srivandana S; Zhu, Yuelin Y; Lei, Haiyan H; Derse-Anthony, Claudia C; Dombi, Eva E; Steinberg, Seth M SM; Lodish, Maya M; Waguespack, Steven G SG; Kapustina, Oxana O; Fox, Elizabeth E; Balis, Frank M FM; Merino, Maria J MJ; Meltzer, Paul S PS; Glod, John W JW; Shern, Jack F JF; Widemann, Brigitte C BC
Publication Date: 2018-02-15

Variant appearance in text: SMARCA4: Leu783Arg
PubMed Link: 29187393
Variant Present in the following documents:
  • Main text
View BVdb publication page