ABCA4 c.2123T>C ;(p.M708T)

Variant ID: 1-94526130-A-G

NM_000350.2(ABCA4):c.2123T>C;(p.M708T)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Deep Learning to Distinguish ABCA4-Related Stargardt Disease from PRPH2-Related Pseudo-Stargardt Pattern Dystrophy.

Journal Of Clinical Medicine
Miere, Alexandra A; Zambrowski, Olivia O; Kessler, Arthur A; Mehanna, Carl-Joe CJ; Pallone, Carlotta C; Seknazi, Daniel D; Denys, Paul P; Amoroso, Francesca F; Petit, Eric E; Souied, Eric H EH
Publication Date: 2021-12-08

Variant appearance in text: ABCA4: 2123T>C
PubMed Link: 34945039
Variant Present in the following documents:
  • Main text
  • jcm-10-05742.pdf
View BVdb publication page


Deep Learning to Distinguish ABCA4-Related Stargardt Disease from PRPH2-Related Pseudo-Stargardt Pattern Dystrophy.

Journal Of Clinical Medicine
Miere, Alexandra A; Zambrowski, Olivia O; Kessler, Arthur A; Mehanna, Carl-Joe CJ; Pallone, Carlotta C; Seknazi, Daniel D; Denys, Paul P; Amoroso, Francesca F; Petit, Eric E; Souied, Eric H EH
Publication Date: 2021-12-08

Variant appearance in text: ABCA4: 2123T>C
PubMed Link: 34945039
Variant Present in the following documents:
  • Main text
  • jcm-10-05742.pdf
View BVdb publication page