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ABCA4 c.3470T>A ;(p.L1157*)
Variant ID: 1-94506817-A-T
NM_000350.2(
ABCA4
):c.3470T>A;(p.L1157*)
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:
Functional characterization of ABCA4 genetic variants related to Stargardt disease.
Scientific Reports
Kim, Bo Min BM; Song, Hyo Sook HS; Kim, Jin-Young JY; Kwon, Eun Young EY; Ha, Seung Yeon SY; Kim, Minsuk M; Choi, Ji Ha JH
Publication Date: 2022-12-24
Variant appearance in text: ABCA4: Leu1157Ter
PubMed Link:
36566289
Variant Present in the following documents:
Main text
41598_2022_Article_26912.pdf
View BVdb publication page
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.
Bmc Medical Genomics
Ma, Dae Joong DJ; Lee, Hyun-Seob HS; Kim, Kwangsoo K; Choi, Seongmin S; Jang, Insoon I; Cho, Seo-Ho SH; Yoon, Chang Ki CK; Lee, Eun Kyoung EK; Yu, Hyeong Gon HG
Publication Date: 2021-03-10
Variant appearance in text: ABCA4: L1157X
PubMed Link:
33691693
Variant Present in the following documents:
12920_2021_874_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page