ABCA4 c.4586A>G ;(p.N1529S)

Variant ID: 1-94490558-T-C

NM_000350.2(ABCA4):c.4586A>G;(p.N1529S)

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:

High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.

Investigative Ophthalmology & Visual Science
Song, Jin J; Smaoui, Nizar N; Ayyagari, Radha R; Stiles, David D; Benhamed, Sonia S; MacDonald, Ian M IM; Daiger, Stephen P SP; Tumminia, Santa J SJ; Hejtmancik, Fielding F; Wang, Xinjing X
Publication Date: 2011-11-25

Variant appearance in text: STGD: 4586A>G
PubMed Link: 22025579
Variant Present in the following documents:
  • Main text
View BVdb publication page