EGR1 c.717del ;(p.Y240Tfs*12)

Variant ID: 5-137802853-GC-G

NM_001964.2(EGR1):c.717del;(p.Y240Tfs*12)

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:

Morbidities and mortality in patients with hereditary thrombotic thrombocytopenic purpura.

Blood Advances
Borogovac, Azra A; Reese, Jessica A JA; Gupta, Samiksha S; George, James N JN
Publication Date: 2022-02-08

Variant appearance in text: 225: 717delC
PubMed Link: 34807988
Variant Present in the following documents:
  • advancesADV2021005760-suppl1.pdf
View BVdb publication page