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ABCA4 c.6196del ;(p.C2066Afs*49)
Variant ID: 1-94467500-CA-C
NM_000350.2(
ABCA4
):c.6196del;(p.C2066Afs*49)
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: 6196delT; Cys2066Alafs
PubMed Link:
35608843
Variant Present in the following documents:
iovs-63-5-28_s010.pdf
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: ABCA4: 6196delT
PubMed Link:
25474345
Variant Present in the following documents:
View BVdb publication page