EGF c.2618A>T ;(p.E873V)

Variant ID: 4-110909749-A-T

NM_001963.4(EGF):c.2618A>T;(p.E873V)

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:

Familial Exudative Vitreoretinopathy-Related Disease-Causing Genes and Norrin/β-Catenin Signal Pathway: Structure, Function, and Mutation Spectrums.

Journal Of Ophthalmology
Xiao, Hongtao H; Tong, Yuna Y; Zhu, Yuxuan Y; Peng, Min M
Publication Date: 2019

Variant appearance in text: EGF: 2618A>T
PubMed Link: 31827910
Variant Present in the following documents:
  • Main text
  • JOPH2019-5782536.pdf
View BVdb publication page