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ABCA4 c.3304G>T ;(p.D1102Y)
Variant ID: 1-94508341-C-A
NM_000350.2(
ABCA4
):c.3304G>T;(p.D1102Y)
This variant was identified in 7 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: 3304G>T; Asp1102Tyr; rs138641544
PubMed Link:
34078906
Variant Present in the following documents:
41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.
Npj Genomic Medicine
Chen, Ta-Ching TC; Huang, Ding-Siang DS; Lin, Chao-Wen CW; Yang, Chang-Hao CH; Yang, Chung-May CM; Wang, Victoria Y VY; Lin, Jou-Wei JW; Luo, Allen Chilun AC; Hu, Fung-Rong FR; Chen, Pei-Lung PL
Publication Date: 2021-02-19
Variant appearance in text: ABCA4: 3304G>T; Asp1102Tyr
PubMed Link:
33608557
Variant Present in the following documents:
41525_2021_180_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
Molecular structures of the eukaryotic retinal importer ABCA4.
Elife
Liu, Fangyu F; Lee, James J; Chen, Jue J
Publication Date: 2021-02-19
Variant appearance in text: ABCA4: D1102Y
PubMed Link:
33605212
Variant Present in the following documents:
Main text
elife-63524.pdf
View BVdb publication page
Molecular structures of the eukaryotic retinal importer ABCA4.
Elife
Liu, Fangyu F; Lee, James J; Chen, Jue J
Publication Date: 2021-02-19
Variant appearance in text: ABCA4: D1102Y
PubMed Link:
33605212
Variant Present in the following documents:
Main text
elife-63524.pdf
View BVdb publication page
The impact of the c.5603A>T hypomorphic variant on founder mutation screening of ABCA4 for Stargardt disease in South Africa.
Molecular Vision
Midgley, Nicole N; Roberts, Lisa L; Rebello, George G; Ramesar, Raj R
Publication Date: 2020
Variant appearance in text: ABCA4: 3304G>T
PubMed Link:
32913387
Variant Present in the following documents:
Main text
mv-v26-613.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: D1102Y
PubMed Link:
32884132
Variant Present in the following documents:
NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6
View BVdb publication page
ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease: Identification of 37 Novel Variants.
Frontiers In Genetics
Hu, Fang-Yuan FY; Li, Jian-Kang JK; Gao, Feng-Juan FJ; Qi, Yu-He YH; Xu, Ping P; Zhang, Yong-Jin YJ; Wang, Dan-Dan DD; Wang, Lu-Sheng LS; Li, Wei W; Wang, Min M; Chen, Fang F; Shen, Si-Mai SM; Xu, Ge-Zhi GZ; Zhang, Sheng-Hai SH; Chang, Qing Q; Wu, Ji-Hong JH
Publication Date: 2019
Variant appearance in text: STGD1: 3304G>T
PubMed Link:
31543898
Variant Present in the following documents:
Table_3.xls, sheet 1
Table_2.xls, sheet 1
View BVdb publication page
Genetic variation in human drug-related genes.
Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22
Variant appearance in text: rs138641544
PubMed Link:
29273096
Variant Present in the following documents:
13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page