ARID1A c.169G>T ;(p.E57*)

Variant ID: 1-27023063-G-T

NM_006015.4(ARID1A):c.169G>T;(p.E57*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS
Publication Date: 2021-01

Variant appearance in text: ARID1A: E57*
PubMed Link: 33314633
Variant Present in the following documents:
  • CAM4-10-53-s002.xlsx, sheet 1
View BVdb publication page



Systemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestations.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics
Miraldi Utz, Virginia V; Brightman, Diana S DS; Sandoval, Monica A MA; Hufnagel, Robert B RB; Saal, Howard M HM
Publication Date: 2020-09

Variant appearance in text: ARID1A: 169G>T; E57X
PubMed Link: 32888375
Variant Present in the following documents:
  • Main text
View BVdb publication page