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EGR1 c.1170_1178del ;(p.H390_E393delinsQ)
Variant ID: 5-137803306-CACACAGGCG-C
NM_001964.2(
EGR1
):c.1170_1178del;(p.H390_E393delinsQ)
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:
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: 1170_1178del
PubMed Link:
32616876
Variant Present in the following documents:
Main text
41431_2020_Article_653.pdf
View BVdb publication page