ABCA4 c.2702C>G ;(p.T901R)

Variant ID: 1-94514465-G-C

NM_000350.2(ABCA4):c.2702C>G;(p.T901R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: ABCA4: T901R
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s5.xls, sheet 1
View BVdb publication page



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: thr901arg
PubMed Link: 20935302
Variant Present in the following documents:
  • Main text
View BVdb publication page