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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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