ABCA4 c.2318A>T ;(p.Y773F)

Variant ID: 1-94522221-T-A

NM_000350.2(ABCA4):c.2318A>T;(p.Y773F)

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:

Advances in Gene Therapy for Diseases of the Eye.

Human Gene Therapy
Petit, Lolita L; Khanna, Hemant H; Punzo, Claudio C
Publication Date: 2016-08

Variant appearance in text: ABCA4: Y773F
PubMed Link: 27178388
Variant Present in the following documents:
  • Main text
  • hum.2016.040.pdf
View BVdb publication page