EGR1 c.1274_1278del ;(p.K425Rfs*115)

Variant ID: 5-137803410-GAAAGC-G

NM_001964.2(EGR1):c.1274_1278del;(p.K425Rfs*115)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency.

European Journal Of Human Genetics : Ejhg
Baumgartner-Parzer, Sabina S; Witsch-Baumgartner, Martina M; Hoeppner, Wolfgang W
Publication Date: 2020-10

Variant appearance in text: 225: 1273_1277del
PubMed Link: 32616876
Variant Present in the following documents:
  • Main text
  • 41431_2020_Article_653.pdf
View BVdb publication page