ABCA4 c.6352_6353delinsGA ;(p.R2118E)

Variant ID: 1-94466591-CT-TC

NM_000350.2(ABCA4):c.6352_6353delinsGA;(p.R2118E)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Stargardt macular dystrophy: common ABCA4 mutations in South Africa--establishment of a rapid genetic test and relating risk to patients.

Molecular Vision
Roberts, Lisa J LJ; Nossek, Christel A CA; Greenberg, L Jacquie LJ; Ramesar, Rajkumar S RS
Publication Date: 2012

Variant appearance in text: ABCR: Arg2118Glu
PubMed Link: 22328824
Variant Present in the following documents:
  • Main text
  • mv-v18-280.pdf
View BVdb publication page