KMT2D c.3635G>A ;(p.S1212N)

Variant ID: 12-49443736-C-T

NM_003482.3(KMT2D):c.3635G>A;(p.S1212N)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Comprehensive Molecular Genetic Diagnostics of Birt-Hogg-Dube Syndrome in a Russian Patient with Renal Cancer and Lung Cysts: A Case Report.

Case Reports In Oncology
Mikhaylenko, Dmitry S DS; Matveev, Vsevolod B VB; Filippova, Margarita G MG; Anoshkin, Kirill I KI; Kozlov, Nikolay A NA; Khachaturyan, Alexander V AV; Semyanikhina, Alexandra V AV; Nifatov, Sergey D SD; Tanas, Alexander S AS; Nemtsova, Marina V MV; Zaletayev, Dmitry V DV
Publication Date: 2021

Variant appearance in text: KMT2D: 3635G>A
PubMed Link: 34703430
Variant Present in the following documents:
  • Main text
  • cro-0014-0963.pdf
View BVdb publication page