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ABCA4 c.1761-2A>G
Variant ID: 1-94528311-T-C
NM_000350.2(
ABCA4
):c.1761-2A>G
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Investigative Ophthalmology & Visual Science
Li, Wei W; He, Xiang-Dong XD; Yang, Zheng-Tao ZT; Han, Dong-Ming DM; Sun, Yan Y; Chen, Yan-Xian YX; Han, Xiao-Tong XT; Guo, Si-Cheng SC; Ma, Yu-Ting YT; Jin, Xin X; Yang, Huan-Ming HM; Gao, Ya Y; Wang, Zhuo-Shi ZS; Li, Jian-Kang JK; He, Wei W
Publication Date: 2023-02-01
Variant appearance in text: ABCA4: 1761-2A>G; rs754765164
PubMed Link:
36729443
Variant Present in the following documents:
iovs-64-2-5_s003.xlsx, sheet 1
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: ABCA4: 1761-2A>G; rs754765164
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: 1761-2A>G; rs754765164
PubMed Link:
33129279
Variant Present in the following documents:
12881_2020_1152_MOESM2_ESM.xls, sheet 1
View BVdb publication page