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ABCA4 c.4793C>G ;(p.A1598G)
Variant ID: 1-94487251-G-C
NM_000350.2(
ABCA4
):c.4793C>G;(p.A1598G)
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:
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: A1598G
PubMed Link:
32884132
Variant Present in the following documents:
NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6
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: 4793C>G
PubMed Link:
26161775
Variant Present in the following documents:
Main text
pone.0132635.pdf
View BVdb publication page