EGR1 c.1130dup ;(p.S378Qfs*33)

Variant ID: 5-137803266-C-CT

NM_001964.2(EGR1):c.1130dup;(p.S378Qfs*33)

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:

Applicability and Efficiency of NGS in Routine Diagnosis: In-Depth Performance Analysis of a Complete Workflow for CFTR Mutation Analysis.

Plos One
Pagin, Adrien A; Devos, Aurore A; Figeac, Martin M; Truant, Maryse M; Willoquaux, Christelle C; Broly, Franck F; Lalau, Guy G
Publication Date: 2016

Variant appearance in text: 225: 1130dup
PubMed Link: 26900683
Variant Present in the following documents:
  • Main text
  • pone.0149426.pdf
View BVdb publication page