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ABCA4 c.6816+1G>A
Variant ID: 1-94461664-C-T
NM_000350.2(
ABCA4
):c.6816+1G>A
This variant was identified in 11 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Different Phenotypes Represent Advancing Stages of ABCA4-Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center.
Investigative Ophthalmology & Visual Science
Wang, Yingwei Y; Sun, Wenmin W; Zhou, Jing J; Li, Xueqing X; Jiang, Yi Y; Li, Shiqiang S; Jia, Xiaoyun X; Xiao, Xueshan X; Ouyang, Jiamin J; Wang, Yueye Y; Zhou, Lin L; Long, Yuxi Y; Liu, Mengchu M; Li, Yongyu Y; Yi, Zhen Z; Wang, Panfeng P; Zhang, Qingjiong Q
Publication Date: 2022-05-02
Variant appearance in text: ABCA4: 6816+1G>A
PubMed Link:
35608843
Variant Present in the following documents:
iovs-63-5-28_s010.pdf
View BVdb publication page
Choroidal Caverns in Stargardt Disease.
Investigative Ophthalmology & Visual Science
Mucciolo, Dario Pasquale DP; Giorgio, Dario D; Lippera, Myrta M; Dattilo, Valeria V; Passerini, Ilaria I; Pelo, Elisabetta E; Sodi, Andrea A; Virgili, Gianni G; Giansanti, Fabrizio F; Murro, Vittoria V
Publication Date: 2022-02-01
Variant appearance in text: ABCA4: 6816+1G>A
PubMed Link:
35156991
Variant Present in the following documents:
Main text
iovs-63-2-25.pdf
View BVdb publication page
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: N/A
PubMed Link:
34078906
Variant Present in the following documents:
View BVdb publication page
Targeted next-generation sequencing identifies ABCA4 mutations in Chinese families with childhood-onset and adult-onset Stargardt disease.
Bioscience Reports
Qu, Ling-Hui LH; Jin, Xin X; Zeng, Chao C; Zhou, Nian-Gou NG; Liu, Yan-Hong YH; Lin, Ye Y
Publication Date: 2021-06-25
Variant appearance in text: ABCA4: 6816+1G>A
PubMed Link:
33988224
Variant Present in the following documents:
Main text
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: 6816+1G>A
PubMed Link:
33608557
Variant Present in the following documents:
41525_2021_180_MOESM2_ESM.xlsx, sheet 1
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: 6816+1G>A
PubMed Link:
32884132
Variant Present in the following documents:
NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6
View BVdb publication page
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09
Variant appearance in text: ABCA4: 6816+1G>A
PubMed Link:
32355288
Variant Present in the following documents:
41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07
Variant appearance in text: ABCA4: 6816+1G>A
PubMed Link:
31165590
Variant Present in the following documents:
MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page
Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort.
International Journal Of Molecular Sciences
Nassisi, Marco M; Mohand-Saïd, Saddek S; Dhaenens, Claire-Marie CM; Boyard, Fiona F; Démontant, Vanessa V; Andrieu, Camille C; Antonio, Aline A; Condroyer, Christel C; Foussard, Marine M; Méjécase, Cécile C; Eandi, Chiara Maria CM; Sahel, José-Alain JA; Zeitz, Christina C; Audo, Isabelle I
Publication Date: 2018-07-27
Variant appearance in text: ABCA4: 6816+1G>A
PubMed Link:
30060493
Variant Present in the following documents:
Main text
ijms-19-02196.pdf
View BVdb publication page
Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis.
Plos One
Xin, Wei W; Xiao, Xueshan X; Li, Shiqiang S; Jia, Xiaoyun X; Guo, Xiangming X; Zhang, Qingjiong Q
Publication Date: 2015
Variant appearance in text: ABCA4: 6816+1G>A
PubMed Link:
26161775
Variant Present in the following documents:
Main text
View BVdb publication page
Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Zaneveld, Jacques J; Siddiqui, Sorath S; Li, Huajin H; Wang, Xia X; Wang, Hui H; Wang, Keqing K; Li, Hui H; Ren, Huanan H; Lopez, Irma I; Dorfman, Allison A; Khan, Ayesha A; Wang, Feng F; Salvo, Jason J; Gelowani, Violet V; Li, Yumei Y; Sui, Ruifang R; Koenekoop, Robert R; Chen, Rui R
Publication Date: 2015-04
Variant appearance in text: ABCR: 6816+1G>A
PubMed Link:
25474345
Variant Present in the following documents:
View BVdb publication page