ABCA4 c.6380C>T ;(p.S2127F)

Variant ID: 1-94466564-G-A

NM_000350.2(ABCA4):c.6380C>T;(p.S2127F)

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:

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: 6380C>T
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: 6380C>T
PubMed Link: 35119454
Variant Present in the following documents:
  • iovs-63-2-11_s003.pdf
View BVdb publication page


The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: ABCA4: 6380C>T; Ser2127Phe; rs1303289867
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page


The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics
Méjécase, Cécile C; Kozak, Igor I; Moosajee, Mariya M
Publication Date: 2020-09

Variant appearance in text: ABCA4: 6380C>T; Ser2127Phe
PubMed Link: 32783370
Variant Present in the following documents:
  • Main text
  • AJMG-184-762.pdf
View BVdb publication page