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ABCA4 c.160+5G>C
Variant ID: 1-94578524-C-G
NM_000350.2(
ABCA4
):c.160+5G>C
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
SpliceVault predicts the precise nature of variant-associated mis-splicing.
Nature Genetics
Dawes, Ruebena R; Bournazos, Adam M AM; Bryen, Samantha J SJ; Bommireddipalli, Shobhana S; Marchant, Rhett G RG; Joshi, Himanshu H; Cooper, Sandra T ST
Publication Date: 2023-02-06
Variant appearance in text: ABCA4: 160+5G>C
PubMed Link:
36747048
Variant Present in the following documents:
41588_2022_1293_MOESM3_ESM.xlsx, sheet 3
View BVdb publication page
Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.
Progress In Retinal And Eye Research
Cremers, Frans P M FPM; Lee, Winston W; Collin, Rob W J RWJ; Allikmets, Rando R
Publication Date: 2020-11
Variant appearance in text: ABCA4: 160+5G>C
PubMed Link:
32278709
Variant Present in the following documents:
Main text
nihms-1627942.pdf
View BVdb publication page
Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.
The British Journal Of Ophthalmology
Fujinami, Kaoru K; Strauss, Rupert W RW; Chiang, John Pei-Wen JP; Audo, Isabelle S IS; Bernstein, Paul S PS; Birch, David G DG; Bomotti, Samantha M SM; Cideciyan, Artur V AV; Ervin, Ann-Margret AM; Marino, Meghan J MJ; Sahel, José-Alain JA; Mohand-Said, Saddek S; Sunness, Janet S JS; Traboulsi, Elias I EI; West, Sheila S; Wojciechowski, Robert R; Zrenner, Eberhart E; Michaelides, Michel M; Scholl, Hendrik P N HPN; , ; ,
Publication Date: 2019-03
Variant appearance in text: ABCR: 160+5G>C
PubMed Link:
29925512
Variant Present in the following documents:
bjophthalmol-2018-312064supp004.pdf
bjophthalmol-2018-312064supp005.pdf
View BVdb publication page
ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.
Genome Research
Sangermano, Riccardo R; Khan, Mubeen M; Cornelis, Stéphanie S SS; Richelle, Valerie V; Albert, Silvia S; Garanto, Alejandro A; Elmelik, Duaa D; Qamar, Raheel R; Lugtenberg, Dorien D; van den Born, L Ingeborgh LI; Collin, Rob W J RWJ; Cremers, Frans P M FPM
Publication Date: 2018-01
Variant appearance in text: STGD1: 160+5G>C
PubMed Link:
29162642
Variant Present in the following documents:
Main text
supp_gr.226621.117_Supplemental_Table_S2.pdf
supp_gr.226621.117_Supplemental_Fig_S2_.pdf
100.pdf
supp_gr.226621.117_Supplemental_Table_S4_.pdf
supp_gr.226621.117_Supplemental_Figures_and_Tables_Legends.pdf
supp_gr.226621.117_Supplemental_Fig_S3.pdf
View BVdb publication page