ABCA4 c.5460+5G>A

Variant ID: 1-94480094-C-T

NM_000350.2(ABCA4):c.5460+5G>A

This variant was identified in 4 publications

View GRCh38 version.




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: 5460+5G>A
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: 5460+5G>A
PubMed Link: 32278709
Variant Present in the following documents:
  • Main text
  • nihms-1627942.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: 5460+5G>A
PubMed Link: 29162642
Variant Present in the following documents:
  • supp_gr.226621.117_Supplemental_Fig_S2_.pdf
  • supp_gr.226621.117_Supplemental_Table_S2.pdf
  • supp_gr.226621.117_Supplemental_Fig_S3.pdf
  • 100.pdf
  • supp_gr.226621.117_Supplemental_Table_S4_.pdf
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Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.

Ophthalmology
Riveiro-Alvarez, Rosa R; Lopez-Martinez, Miguel-Angel MA; Zernant, Jana J; Aguirre-Lamban, Jana J; Cantalapiedra, Diego D; Avila-Fernandez, Almudena A; Gimenez, Ascension A; Lopez-Molina, Maria-Isabel MI; Garcia-Sandoval, Blanca B; Blanco-Kelly, Fiona F; Corton, Marta M; Tatu, Sorina S; Fernandez-San Jose, Patricia P; Trujillo-Tiebas, Maria-Jose MJ; Ramos, Carmen C; Allikmets, Rando R; Ayuso, Carmen C
Publication Date: 2013-11

Variant appearance in text: STGD: 5460+5G>A
PubMed Link: 23755871
Variant Present in the following documents:
  • Main text
View BVdb publication page