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