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ABCA4 c.1302del ;(p.Q437Rfs*12)
Variant ID: 1-94544200-CT-C
NM_000350.2(
ABCA4
):c.1302del;(p.Q437Rfs*12)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: 1302delA
PubMed Link:
34078906
Variant Present in the following documents:
41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
Absence of Genotype/Phenotype Correlations Requires Molecular Diagnostic to Ascertain Stargardt and Stargardt-Like Swiss Patients.
Genes
Buhler, Virginie M M VMM; Berger, Lieselotte L; Schaller, André A; Zinkernagel, Martin S MS; Wolf, Sebastian S; Escher, Pascal P
Publication Date: 2021-05-26
Variant appearance in text: ABCA4: 1302delA
PubMed Link:
34073554
Variant Present in the following documents:
Main text
genes-12-00812.pdf
View BVdb publication page
Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies.
International Journal Of Molecular Sciences
Boulanger-Scemama, Elise E; Mohand-Saïd, Saddek S; El Shamieh, Said S; Démontant, Vanessa V; Condroyer, Christel C; Antonio, Aline A; Michiels, Christelle C; Boyard, Fiona F; Saraiva, Jean-Paul JP; Letexier, Mélanie M; Sahel, José-Alain JA; Zeitz, Christina C; Audo, Isabelle I
Publication Date: 2019-09-30
Variant appearance in text: ABCA4: 1302del; Q437Rfs*12
PubMed Link:
31574917
Variant Present in the following documents:
Main text
ijms-20-04854.pdf
View BVdb publication page
Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.
Orphanet Journal Of Rare Diseases
Boulanger-Scemama, Elise E; El Shamieh, Said S; Démontant, Vanessa V; Condroyer, Christel C; Antonio, Aline A; Michiels, Christelle C; Boyard, Fiona F; Saraiva, Jean-Paul JP; Letexier, Mélanie M; Souied, Eric E; Mohand-Saïd, Saddek S; Sahel, José-Alain JA; Zeitz, Christina C; Audo, Isabelle I
Publication Date: 2015-06-24
Variant appearance in text: ABCA4: 1302del; Q437Rfs*12
PubMed Link:
26103963
Variant Present in the following documents:
Main text
13023_2015_Article_300.pdf
View BVdb publication page