RET c.2755G>C ;(p.A919P)

Variant ID: 10-43617418-G-C

NM_020975.4(RET):c.2755G>C;(p.A919P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Diffuse leptomeningeal glioneuronal tumour (DLGNT) in children: the emerging role of genomic analysis.

Acta Neuropathologica Communications
Manoharan, Neevika N; Ajuyah, Pamela P; Senapati, Akanksha A; Wong, Marie M; Mullins, Anna A; Rodriguez, Michael M; Doyle, Helen H; McCowage, Geoff G; Lau, Loretta M S LMS; Ekert, Paul G PG; Ziegler, David S DS
Publication Date: 2021-09-07

Variant appearance in text: RET: 2755G>C; A919P
PubMed Link: 34493325
Variant Present in the following documents:
  • Main text
  • 40478_2021_Article_1248.pdf
  • 40478_2021_1248_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: RET: A919P
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page