ABCA4 c.2054C>T ;(p.T685I)

Variant ID: 1-94526199-G-A

NM_000350.2(ABCA4):c.2054C>T;(p.T685I)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies.

Npj Genomic Medicine
Iancu, Ionut-Florin IF; Avila-Fernandez, Almudena A; Arteche, Ana A; Trujillo-Tiebas, Maria Jose MJ; Riveiro-Alvarez, Rosa R; Almoguera, Berta B; Martin-Merida, Inmaculada I; Del Pozo-Valero, Marta M; Perea-Romero, Irene I; Corton, Marta M; Minguez, Pablo P; Ayuso, Carmen C
Publication Date: 2021-02-23

Variant appearance in text: ABCA4: 2054C>T; Thr685Ile
PubMed Link: 33623043
Variant Present in the following documents:
  • 41525_2021_182_MOESM1_ESM.pdf
View BVdb publication page