TERT c.1223T>C ;(p.L408P)

Variant ID: 5-1293778-A-G

NM_198253.2(TERT):c.1223T>C;(p.L408P)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Utility of clinical comprehensive genomic characterization for diagnostic categorization in patients presenting with hypocellular bone marrow failure syndromes.

Haematologica
Blombery, Piers P; Fox, Lucy L; Ryland, Georgina L GL; Thompson, Ella R ER; Lickiss, Jennifer J; McBean, Michelle M; Yerneni, Satwica S; Hughes, David D; Greenway, Anthea A; Mechinaud, Francoise F; Wood, Erica M EM; Lieschke, Graham J GJ; Szer, Jeff J; Barbaro, Pasquale P; Roy, John J; Wight, Joel J; Lynch, Elly E; Martyn, Melissa M; Gaff, Clara C; Ritchie, David D
Publication Date: 2021-01-01

Variant appearance in text: TERT: Leu408Pro
PubMed Link: 32054657
Variant Present in the following documents:
  • Main text
  • 2019_237693_BLOMBERY_SUPPL.pdf
  • 10664.pdf
View BVdb publication page