ARID1A c.2395C>G ;(p.Q799E)

Variant ID: 1-27088786-C-G

NM_006015.4(ARID1A):c.2395C>G;(p.Q799E)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Implementation of Precision Oncology for Patients with Metastatic Breast Cancer in an Interdisciplinary MTB Setting.

Diagnostics (Basel, Switzerland)
Sultova, Elena E; Westphalen, C Benedikt CB; Jung, Andreas A; Kumbrink, Joerg J; Kirchner, Thomas T; Mayr, Doris D; Rudelius, Martina M; Ormanns, Steffen S; Heinemann, Volker V; Metzeler, Klaus H KH; Greif, Philipp A PA; Hester, Anna A; Mahner, Sven S; Harbeck, Nadia N; Wuerstlein, Rachel R
Publication Date: 2021-04-20

Variant appearance in text: ARID1A: 2395C>G; Gln799Glu
PubMed Link: 33924134
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Publication Date: 2019-02-19

Variant appearance in text: ARID1A: Q799E
PubMed Link: 30784590
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: ARID1A: 2395C>G; Gln799Glu
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page