ATM c.2347del ;(p.C783Vfs*5)

Variant ID: 11-108128304-AT-A

NM_000051.3(ATM):c.2347del;(p.C783Vfs*5)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


An unusual case of microsatellite instability-high/deficient mismatch repair (MSI-H/dMMR) diffuse large B-cell lymphoma revealed by targeted gene sequencing.

Journal Of Pathology And Translational Medicine
Han, Bogyeong B; Kim, Sehui S; Koh, Jiwon J; Bae, Jeong Mo JM; Yun, Hongseok H; Jeon, Yoon Kyung YK
Publication Date: 2022-03

Variant appearance in text: ATM: 2347delT
PubMed Link: 34775735
Variant Present in the following documents:
  • jptm-2021-10-15.pdf
View BVdb publication page