EGR1 c.624del ;(p.F209Sfs*43)

Variant ID: 5-137802760-AC-A

NM_001964.2(EGR1):c.624del;(p.F209Sfs*43)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Clinical, Biochemical, and Molecular Analyses of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients.

Frontiers In Genetics
Gong, Zhuwen Z; Liang, Lili L; Qiu, Wenjuan W; Zhang, Huiwen H; Ye, Jun J; Wang, Yu Y; Ji, Wenjun W; Chen, Ting T; Gu, Xuefan X; Han, Lianshu L
Publication Date: 2021

Variant appearance in text: 225: 624del
PubMed Link: 33841490
Variant Present in the following documents:
  • Main text
  • fgene-12-577046.pdf
View BVdb publication page