EGR1 c.758C>A ;(p.P253H)

Variant ID: 5-137802896-C-A

NM_001964.2(EGR1):c.758C>A;(p.P253H)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


The R168G heterozygous mutation of tropomyosin 3 (TPM3) was identified in three family members and has manifestations ranging from asymptotic to serve scoliosis and respiratory complications.

Genes & Diseases
Xu, Haoyue H; Liu, Hang H; Chen, Tao T; Song, Bo B; Zhu, Jin J; Liu, Xing X; Li, Ming M; Luo, Cong C
Publication Date: 2021-09

Variant appearance in text: 225: 758C>A
PubMed Link: 34291143
Variant Present in the following documents:
  • main.pdf
View BVdb publication page