DOT1L c.3554C>G ;(p.S1185*)

Variant ID: 19-2223443-C-G

NM_032482.2(DOT1L):c.3554C>G;(p.S1185*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing.

Npj Breast Cancer
Kostecka, Anna A; Nowikiewicz, Tomasz T; Olszewski, Paweł P; Koczkowska, Magdalena M; Horbacz, Monika M; Heinzl, Monika M; Andreou, Maria M; Salazar, Renato R; Mair, Theresa T; Madanecki, Piotr P; Gucwa, Magdalena M; Davies, Hanna H; Skokowski, Jarosław J; Buckley, Patrick G PG; Pęksa, Rafał R; Śrutek, Ewa E; Szylberg, Łukasz Ł; Hartman, Johan J; Jankowski, Michał M; Zegarski, Wojciech W; Tiemann-Boege, Irene I; Dumanski, Jan P JP; Piotrowski, Arkadiusz A
Publication Date: 2022-06-29

Variant appearance in text: DOT1L: 3554C>G; Ser1185Ter
PubMed Link: 35768433
Variant Present in the following documents:
  • 41523_2022_443_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page