ABCA4 c.2888del ;(p.G963Afs*14)

Variant ID: 1-94512504-GC-G

NM_000350.2(ABCA4):c.2888del;(p.G963Afs*14)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients.

Frontiers In Genetics
Mena, Marcela D MD; Moresco, Angélica A AA; Vidal, Sofía H SH; Aguilar-Cortes, Diana D; Obregon, María G MG; Fandiño, Adriana C AC; Sendoya, Juan M JM; Llera, Andrea S AS; Podhajcer, Osvaldo L OL
Publication Date: 2021

Variant appearance in text: ABCA4: 2888del; Gly963Alafs*14
PubMed Link: 33841504
Variant Present in the following documents:
  • Data_Sheet_2.xlsx, sheet 2
View BVdb publication page



A novel statistical method for interpreting the pathogenicity of rare variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R
Publication Date: 2021-01

Variant appearance in text: ABCA4: 2888delG; G963fs
PubMed Link: 32884132
Variant Present in the following documents:
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6
View BVdb publication page



A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies.

Scientific Reports
Ezquerra-Inchausti, Maitane M; Anasagasti, Ander A; Barandika, Olatz O; Garay-Aramburu, Gonzaga G; Galdós, Marta M; López de Munain, Adolfo A; Irigoyen, Cristina C; Ruiz-Ederra, Javier J
Publication Date: 2018-10-18

Variant appearance in text: ABCA4: 2888_2888del; Gly963fs
PubMed Link: 30337596
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_33810.pdf
View BVdb publication page



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: ABCA4: 2888delG
PubMed Link: 23755871
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants.

The British Journal Of Ophthalmology
Aguirre-Lamban, J J; Riveiro-Alvarez, R R; Maia-Lopes, S S; Cantalapiedra, D D; Vallespin, E E; Avila-Fernandez, A A; Villaverde-Montero, C C; Trujillo-Tiebas, M J MJ; Ramos, C C; Ayuso, C C
Publication Date: 2009-05

Variant appearance in text: ABCR: 2888delG
PubMed Link: 19028736
Variant Present in the following documents:
  • Main text
View BVdb publication page



Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.

The British Journal Of Ophthalmology
Riveiro-Alvarez, R R; Aguirre-Lamban, J J; Lopez-Martinez, M Angel MA; Trujillo-Tiebas, M Jose MJ; Cantalapiedra, D D; Vallespin, E E; Avila-Fernandez, A A; Ramos, C C; Ayuso, C C
Publication Date: 2009-10

Variant appearance in text: STGD: 2888delG
PubMed Link: 18977788
Variant Present in the following documents:
  • Main text
  • BJ1-93-10-1359.pdf
View BVdb publication page