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ABCA4 c.5167T>C ;(p.Y1723H)
Variant ID: 1-94485167-A-G
NM_000350.2(
ABCA4
):c.5167T>C;(p.Y1723H)
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:
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: 5167T>C; Tyr1723His
PubMed Link:
36729443
Variant Present in the following documents:
iovs-64-2-5_s003.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: Tyr1723His
PubMed Link:
33129279
Variant Present in the following documents:
Main text
12881_2020_1152_MOESM2_ESM.xls, sheet 1
12881_2020_Article_1152.pdf
View BVdb publication page