ABCA4 c.4672G>A ;(p.G1558R)

Variant ID: 1-94487503-C-T

NM_000350.2(ABCA4):c.4672G>A;(p.G1558R)

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:

Structural and Pathogenic Impacts of ABCA4 Variants in Retinal Degenerations-An In-Silico Study.

International Journal Of Molecular Sciences
Cevik, Senem S; Biswas, Subhasis B SB; Biswas-Fiss, Esther E EE
Publication Date: 2023-04-14

Variant appearance in text: ABCA4: 4672G>A
PubMed Link: 37108442
Variant Present in the following documents:
  • Main text
  • ijms-24-07280.pdf
View BVdb publication page


Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.

Investigative Ophthalmology & Visual Science
Del Pozo-Valero, Marta M; Riveiro-Alvarez, Rosa R; Martin-Merida, Inmaculada I; Blanco-Kelly, Fiona F; Swafiri, Saoud S; Lorda-Sanchez, Isabel I; Trujillo-Tiebas, Maria José MJ; Carreño, Ester E; Jimenez-Rolando, Belen B; Garcia-Sandoval, Blanca B; Corton, Marta M; Avila-Fernandez, Almudena A; Ayuso, Carmen C
Publication Date: 2022-02-01

Variant appearance in text: ABCA4: 4672G>A
PubMed Link: 35119454
Variant Present in the following documents:
  • iovs-63-2-11_s003.pdf
View BVdb publication page


Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.

Investigative Ophthalmology & Visual Science
Del Pozo-Valero, Marta M; Riveiro-Alvarez, Rosa R; Martin-Merida, Inmaculada I; Blanco-Kelly, Fiona F; Swafiri, Saoud S; Lorda-Sanchez, Isabel I; Trujillo-Tiebas, Maria José MJ; Carreño, Ester E; Jimenez-Rolando, Belen B; Garcia-Sandoval, Blanca B; Corton, Marta M; Avila-Fernandez, Almudena A; Ayuso, Carmen C
Publication Date: 2022-02-01

Variant appearance in text: ABCA4: 4672G>A
PubMed Link: 35119454
Variant Present in the following documents:
  • iovs-63-2-11_s003.pdf
View BVdb publication page


The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine
Chang, Darwin D; Shain, A Hunter AH
Publication Date: 2021-07-16

Variant appearance in text: ABCA4: G1558R
PubMed Link: 34272401
Variant Present in the following documents:
  • 41525_2021_226_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page