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ABCA4 c.2034G>T ;(p.K678N)
Variant ID: 1-94526219-C-A
NM_000350.2(
ABCA4
):c.2034G>T;(p.K678N)
This variant was identified in 6 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: 2034G>T; Lys678Asn; rs1376036671
PubMed Link:
34078906
Variant Present in the following documents:
41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
Novel variants of ABCA4 in Han Chinese families with Stargardt disease.
Bmc Medical Genetics
Hu, Fang-Yuan FY; Gao, Feng-Juan FJ; Li, Jian-Kang JK; Xu, Ping P; Wang, Dan-Dan DD; Zhang, Sheng-Hai SH; Wu, Ji-Hong JH
Publication Date: 2020-10-31
Variant appearance in text: ABCA4: Lys678Asn
PubMed Link:
33129279
Variant Present in the following documents:
Main text
12881_2020_1152_MOESM2_ESM.xls, sheet 1
12881_2020_Article_1152.pdf
View BVdb publication page
A novel statistical method for interpreting the pathogenicity of rare variants.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R
Publication Date: 2021-01
Variant appearance in text: ABCA4: K678N
PubMed Link:
32884132
Variant Present in the following documents:
NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6
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: 2034G>T; K678N
PubMed Link:
31574917
Variant Present in the following documents:
Main text
ijms-20-04854.pdf
View BVdb publication page
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16
Variant appearance in text: ABCA4: K678N
PubMed Link:
27527004
Variant Present in the following documents:
srep31321-s3.xls, sheet 1
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: 2034G>T
PubMed Link:
26103963
Variant Present in the following documents:
Main text
13023_2015_Article_300.pdf
View BVdb publication page