EGF c.2291G>A ;(p.W764*)

Variant ID: 4-110902051-G-A

NM_001963.4(EGF):c.2291G>A;(p.W764*)

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:

The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes.

Scientific Reports
Motta, Fabiana Louise FL; Salles, Mariana Vallim MV; Costa, Karita Antunes KA; Filippelli-Silva, Rafael R; Martin, Renan Paulo RP; Sallum, Juliana Maria Ferraz JMF
Publication Date: 2017-08-17

Variant appearance in text: EGF: 2291G>A
PubMed Link: 28819299
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_9035.pdf
View BVdb publication page