EGR1 c.510del ;(p.S171Rfs*20)

Variant ID: 5-137802646-TC-T

NM_001964.2(EGR1):c.510del;(p.S171Rfs*20)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A Two-Year Clinical Description of a Patient with a Rare Type of Low-GGT Cholestasis Caused by a Novel Variant of USP53.

Genes
Shatokhina, Olga O; Semenova, Natalia N; Demina, Nina N; Dadali, Elena E; Polyakov, Alexander A; Ryzhkova, Oxana O
Publication Date: 2021-10-14

Variant appearance in text: 225: 510del
PubMed Link: 34681012
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic characterization of a newly established esophageal squamous cell carcinoma cell line from China and published esophageal squamous cell carcinoma cell lines.

Cancer Cell International
Li, Xiang X; Tian, Dongping D; Guo, Yi Y; Qiu, Shiyue S; Xu, Zexin Z; Deng, Wen W; Su, Min M
Publication Date: 2020

Variant appearance in text: 225: 510delC
PubMed Link: 32489320
Variant Present in the following documents:
  • 12935_2020_1268_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page