TERT c.1189C>G ;(p.L397V)

Variant ID: 5-1293812-G-C

NM_198253.2(TERT):c.1189C>G;(p.L397V)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Heterozygous RTEL1 variants in bone marrow failure and myeloid neoplasms.

Blood Advances
Marsh, Judith C W JCW; Gutierrez-Rodrigues, Fernanda F; Cooper, James J; Jiang, Jie J; Gandhi, Shreyans S; Kajigaya, Sachiko S; Feng, Xingmin X; Ibanez, Maria Del Pilar F MDPF; Donaires, Flávia S FS; Lopes da Silva, João P JP; Li, Zejuan Z; Das, Soma S; Ibanez, Maria M; Smith, Alexander E AE; Lea, Nicholas N; Best, Steven S; Ireland, Robin R; Kulasekararaj, Austin G AG; McLornan, Donal P DP; Pagliuca, Anthony A; Callebaut, Isabelle I; Young, Neal S NS; Calado, Rodrigo T RT; Townsley, Danielle M DM; Mufti, Ghulam J GJ
Publication Date: 2018-01-09

Variant appearance in text: TERT: 1189C>G
PubMed Link: 29344583
Variant Present in the following documents:
  • Main text
View BVdb publication page