DNMT3A c.920C>A ;(p.P307Q)

Variant ID: 2-25470554-G-T

NM_022552.4(DNMT3A):c.920C>A;(p.P307Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Recurrent missense variants in clonal hematopoiesis-related genes present in the general population.

Clinical Genetics
Ariste, Olivier O; de la Grange, Pierre P; Veitia, Reiner A RA
Publication Date: 2022-11-10

Variant appearance in text: DNMT3A: 920C>A; Pro307Gln; rs759380437
PubMed Link: 36353970
Variant Present in the following documents:
  • CGE-103-247-s001.xlsx, sheet 1
View BVdb publication page



Novel DNMT3A Germline Variant in a Patient with Multiple Paragangliomas and Papillary Thyroid Carcinoma.

Cancers
Mellid, Sara S; Coloma, Javier J; Calsina, Bruna B; Monteagudo, María M; Roldán-Romero, Juan M JM; Santos, María M; Leandro-García, Luis J LJ; Lanillos, Javier J; Martínez-Montes, Ángel M ÁM; Rodríguez-Antona, Cristina C; Montero-Conde, Cristina C; Martínez-López, Joaquín J; Ayala, Rosa R; Matias-Guiu, Xavier X; Robledo, Mercedes M; Cascón, Alberto A
Publication Date: 2020-11-09

Variant appearance in text: DNMT3A: 920C>A; Pro307Gln; rs759380437
PubMed Link: 33182397
Variant Present in the following documents:
  • cancers-12-03304-s001.pdf
View BVdb publication page