Bibliome.ai browser hg19
Search
About
Stats
FAQ
EGR1 c.169_171delinsTGG ;(p.G57W)
Variant ID: 5-137801619-GGC-TGG
NM_001964.2(
EGR1
):c.169_171delinsTGG;(p.G57W)
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:
Structural study of the G57W mutant of human gamma-S-crystallin, associated with congenital cataract.
Molecular Vision
Khan, Ismail I; Chandani, Sushil S; Balasubramanian, Dorairajan D
Publication Date: 2016
Variant appearance in text: 225: G57W
PubMed Link:
27440995
Variant Present in the following documents:
Main text
mv-v22-771.pdf
View BVdb publication page