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ABCA4 c.2092T>C ;(p.C698R)
Variant ID: 1-94526161-A-G
NM_000350.2(
ABCA4
):c.2092T>C;(p.C698R)
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:
Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles.
Journal Of Ophthalmology
Smaragda, Kamakari K; Vassiliki, Kokkinou K; George, Koutsodontis K; Polixeni, Stamatiou S; Christoforos, Giatzakis G; Anastasios, Anastasakis A; Minas, Aslanides Ioannis AI; Stavrenia, Koukoula K; Theoni, Panagiotoglou P; Ioannis, Datseris D; Miltiadis, Tsilimbaris K TK
Publication Date: 2018
Variant appearance in text: STGD1: 2092T>C
PubMed Link:
29854428
Variant Present in the following documents:
Main text
JOPH2018-5706142.pdf
View BVdb publication page