EGR1 c.667_683del ;(p.Q223Gfs*65)

Variant ID: 5-137802803-GCCAGGCCTTCCCGGGCT-G

NM_001964.2(EGR1):c.667_683del;(p.Q223Gfs*65)

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:

Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II).

Bmc Medical Genomics
Semyachkina, Alla Nikolaevna AN; Voskoboeva, Elena Yurievna EY; Nikolaeva, Ekaterina Alexandrovna EA; Zakharova, Ekaterina Yurievna EY
Publication Date: 2021-03-06

Variant appearance in text: 225: 667_683del
PubMed Link: 33676511
Variant Present in the following documents:
  • Main text
View BVdb publication page