ABCA4 c.967del ;(p.L323Cfs*51)

Variant ID: 1-94546165-AG-A

NM_000350.2(ABCA4):c.967del;(p.L323Cfs*51)

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:

Perifoveal Cone- and Rod-Mediated Temporal Contrast Sensitivities in Stargardt Disease/Fundus Flavimaculatus.

Investigative Ophthalmology & Visual Science
Fars, Julien J; Pasutto, Francesca F; Kremers, Jan J; Huchzermeyer, Cord C
Publication Date: 2021-11-01

Variant appearance in text: STGD1: 967delC
PubMed Link: 34807235
Variant Present in the following documents:
  • Main text
  • iovs-62-14-24.pdf
View BVdb publication page