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ABCA4 c.6694G>T ;(p.E2232*)
Variant ID: 1-94463452-C-A
NM_000350.2(
ABCA4
):c.6694G>T;(p.E2232*)
This variant was identified in 2 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: 6694G>T; Glu2232*
PubMed Link:
35608843
Variant Present in the following documents:
iovs-63-5-28_s010.pdf
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: ABCA4: 6694G>T; Glu2232*
PubMed Link:
31543898
Variant Present in the following documents:
Table_2.xls, sheet 1
View BVdb publication page