ABCA4 c.1571A>C ;(p.K524T)

Variant ID: 1-94528857-T-G

NM_000350.2(ABCA4):c.1571A>C;(p.K524T)

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:

Spectral-domain OCT peripapillary retinal nerve fibre layer thickness measurements in patients with Stargardt disease.

The British Journal Of Ophthalmology
Genead, Mohamed A MA; Fishman, Gerald A GA; Anastasakis, Anastasios A
Publication Date: 2011-05

Variant appearance in text: ABCA4: lys524thr
PubMed Link: 20935302
Variant Present in the following documents:
  • Main text
View BVdb publication page