ABCA4 c.4666del ;(p.R1556Gfs*25)

Variant ID: 1-94488943-CT-C

NM_000350.2(ABCA4):c.4666del;(p.R1556Gfs*25)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.

Clinical Ophthalmology (Auckland, N.Z.)
Bryant, Laura L; Lozynska, Olga O; Maguire, Albert M AM; Aleman, Tomas S TS; Bennett, Jean J
Publication Date: 2018

Variant appearance in text: ABCA4: 4666del; Arg1556Glyfs*25
PubMed Link: 29343940
Variant Present in the following documents:
  • Main text
View BVdb publication page