DNMT3A c.2340_2343del ;(p.I780Mfs*21)

Variant ID: 2-25462063-CATCA-C

NM_022552.4(DNMT3A):c.2340_2343del;(p.I780Mfs*21)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Perturbed hematopoiesis in individuals with germline DNMT3A overgrowth Tatton-Brown-Rahman syndrome.

Haematologica
Tovy, Ayala A; Rosas, Carina C; Gaikwad, Amos S AS; Medrano, Geraldo G; Zhang, Linda L; Reyes, Jaime M JM; Huang, Yung-Hsin YH; Arakawa, Tastuhiko T; Kurtz, Kristen K; Conneely, Shannon E SE; Guzman, Anna G AG; Aguilar, Rogelio R; Gao, Anne A; Chen, Chun-Wei CW; Kim, Jean J JJ; Carter, Melissa T MT; Lasa-Aranzasti, Amaia A; Valenzuela, Irene I; Van Maldergem, Lionel L; Brunetti, Lorenzo L; Hicks, M John MJ; Marcogliese, Andrea N AN; Goodell, Margaret A MA; Rau, Rachel E RE
Publication Date: 2022-04-01

Variant appearance in text: DNMT3A: 2340_2343del; I780Mfs*21
PubMed Link: 34092059
Variant Present in the following documents:
  • 2021_278990_TOVY_SUPPL.pdf
View BVdb publication page