ABCA4 c.5312+3A>T

Variant ID: 1-94481292-T-A

NM_000350.2(ABCA4):c.5312+3A>T

This variant was identified in 5 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: 5312+3A>T
PubMed Link: 36747048
Variant Present in the following documents:
  • 41588_2022_1293_MOESM3_ESM.xlsx, sheet 3
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: ABCA4: 5312+3A>T
PubMed Link: 29162642
Variant Present in the following documents:
  • Main text
  • 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
View BVdb publication page



Novel compound heterozygous mutations in ABCA4 in a Chinese pedigree with Stargardt disease.

Molecular Vision
Zhang, Jianping J; Qi, Anhui A; Wang, Xi X; Pan, Hong H; Mo, Haiming H; Huang, Jiwei J; Li, Honghui H; Chen, Zhenwen Z; Wei, Meirong M; Wang, Binbin B
Publication Date: 2016

Variant appearance in text: ABCA4: 5312+3A>T
PubMed Link: 28050124
Variant Present in the following documents:
  • Main text
  • mv-v22-1514.pdf
View BVdb publication page



Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.

Advances In Bioinformatics
Tang, Rongying R; Prosser, Debra O DO; Love, Donald R DR
Publication Date: 2016

Variant appearance in text: ABCA4: 5312+3A>T
PubMed Link: 27313609
Variant Present in the following documents:
  • 5614058.f1.pdf
View BVdb publication page



Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease.

Molecular Vision
Xi, Quansheng Q; Li, Lin L; Traboulsi, Elias I EI; Wang, Qing Kenneth QK
Publication Date: 2009

Variant appearance in text: ABCA4: 5312+3A>T
PubMed Link: 19352439
Variant Present in the following documents:
  • Main text
  • mv-v15-638.pdf
View BVdb publication page