MYH7 c.2483C>T ;(p.P828L)

Variant ID: 14-23894174-G-A

NM_000257.2(MYH7):c.2483C>T;(p.P828L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: MYH7: 2483C>T; P828L
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Characterization of Left Ventricular Non-Compaction Cardiomyopathy.

Journal Of Clinical Medicine
Lorca, Rebeca R; Martín, María M; Pascual, Isaac I; Astudillo, Aurora A; Díaz Molina, Beatriz B; Cigarrán, Helena H; Cuesta-Llavona, Elías E; Avanzas, Pablo P; Rodríguez Reguero, José Julían JJ; Coto, Eliecer E; Morís, César C; Gómez, Juan J
Publication Date: 2020-08-05

Variant appearance in text: MYH7: 2483C>T; Pro828Leu
PubMed Link: 32764337
Variant Present in the following documents:
  • Main text
  • jcm-09-02524.pdf
View BVdb publication page