ATM c.700G>A ;(p.A234T)

Variant ID: 11-108115552-G-A

NM_000051.3(ATM):c.700G>A;(p.A234T)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Targeted Next-Generation Sequencing Indicates a Frequent Oligogenic Involvement in Primary Ovarian Insufficiency Onset.

Frontiers In Endocrinology
Rossetti, Raffaella R; Moleri, Silvia S; Guizzardi, Fabiana F; Gentilini, Davide D; Libera, Laura L; Marozzi, Anna A; Moretti, Costanzo C; Brancati, Francesco F; Bonomi, Marco M; Persani, Luca L
Publication Date: 2021

Variant appearance in text: ATM: 700G>A
PubMed Link: 34803902
Variant Present in the following documents:
  • fendo-12-664645.pdf
View BVdb publication page



Recurrent PTPRT/JAK2 mutations in lung adenocarcinoma among African Americans.

Nature Communications
Mitchell, Khadijah A KA; Nichols, Noah N; Tang, Wei W; Walling, Jennifer J; Stevenson, Holly H; Pineda, Marbin M; Stefanescu, Roxana R; Edelman, Daniel C DC; Girvin, Andrew T AT; Zingone, Adriana A; Sinha, Sanju S; Bowman, Elise E; Rossi, Emily L EL; Arauz, Rony F RF; Jack Zhu, Yuelin Y; Lack, Justin J; Weingartner, Elizabeth E; Waterfall, Joshua J JJ; Pine, Sharon R SR; Simmons, John J; Meltzer, Paul P; Ryan, BrĂ­d M BM
Publication Date: 2019-12-16

Variant appearance in text: ATM: 700G>A
PubMed Link: 31844068
Variant Present in the following documents:
  • 41467_2019_13732_MOESM12_ESM.xlsx, sheet 1
View BVdb publication page