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ABCA4 c.5714+1G>C
Variant ID: 1-94476355-C-G
NM_000350.2(
ABCA4
):c.5714+1G>C
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Retinal Pigment Epithelium Atrophy in Recessive Stargardt Disease as Measured by Short-Wavelength and Near-Infrared Autofluorescence.
Translational Vision Science & Technology
Jauregui, Ruben R; Nuzbrokh, Yan Y; Su, Pei-Yin PY; Zernant, Jana J; Allikmets, Rando R; Tsang, Stephen H SH; Sparrow, Janet R JR
Publication Date: 2021-01
Variant appearance in text: ABCA4: 5714+1G>C
PubMed Link:
33505770
Variant Present in the following documents:
tvst-10-1-3_s002.pdf
View BVdb publication page
Progressive Choriocapillaris Impairment in ABCA4 Maculopathy Is Secondary to Retinal Pigment Epithelium Atrophy.
Investigative Ophthalmology & Visual Science
Jauregui, Ruben R; Cho, Ahra A; Lee, Winston W; Zernant, Jana J; Allikmets, Rando R; Sparrow, Janet R JR; Tsang, Stephen H SH
Publication Date: 2020-04-09
Variant appearance in text: ABCA4: 5714+1G>C
PubMed Link:
32298433
Variant Present in the following documents:
iovs-61-4-13_s001.pdf
View BVdb publication page
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: ABCA4: 5714+1G>C
PubMed Link:
29854428
Variant Present in the following documents:
Main text
JOPH2018-5706142.pdf
View BVdb publication page