EGR1 c.1383_1405del ;(p.A462Cfs*72)

Variant ID: 5-137803517-CCCCGGCCACCACCTCATACCCAT-C

NM_001964.2(EGR1):c.1383_1405del;(p.A462Cfs*72)

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:

Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.

Human Mutation
Cardoso, Luís L; Stevenson, Mark M; Thakker, Rajesh V RV
Publication Date: 2017-12

Variant appearance in text: 225: 1382_1404del
PubMed Link: 28881068
Variant Present in the following documents:
  • Main text
  • HUMU-38-1621.pdf
View BVdb publication page