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ABCA4 c.1906C>A ;(p.Q636K)
Variant ID: 1-94528164-G-T
NM_000350.2(
ABCA4
):c.1906C>A;(p.Q636K)
This variant was identified in 6 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: 1906C>A; Gln636Lys
PubMed Link:
35608843
Variant Present in the following documents:
iovs-63-5-28_s010.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: Q636K
PubMed Link:
33691693
Variant Present in the following documents:
12920_2021_874_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page
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: Q636K
PubMed Link:
32884132
Variant Present in the following documents:
NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6
View BVdb publication page
Genotypic profile and phenotype correlations of ABCA4-associated retinopathy in Koreans.
Molecular Vision
Joo, Kwangsic K; Seong, Moon-Woo MW; Park, Kyu Hyung KH; Park, Sung Sup SS; Woo, Se Joon SJ
Publication Date: 2019
Variant appearance in text: STGD: 1906C>A
PubMed Link:
31814693
Variant Present in the following documents:
Main text
mv-v25-679.pdf
View BVdb publication page
ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease: Identification of 37 Novel Variants.
Frontiers In Genetics
Hu, Fang-Yuan FY; Li, Jian-Kang JK; Gao, Feng-Juan FJ; Qi, Yu-He YH; Xu, Ping P; Zhang, Yong-Jin YJ; Wang, Dan-Dan DD; Wang, Lu-Sheng LS; Li, Wei W; Wang, Min M; Chen, Fang F; Shen, Si-Mai SM; Xu, Ge-Zhi GZ; Zhang, Sheng-Hai SH; Chang, Qing Q; Wu, Ji-Hong JH
Publication Date: 2019
Variant appearance in text: STGD1: 1906C>A
PubMed Link:
31543898
Variant Present in the following documents:
Table_3.xls, sheet 1
Table_2.xls, sheet 1
View BVdb publication page
Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases.
Journal Of Korean Medical Science
Kim, Min Seok MS; Joo, Kwangsic K; Seong, Moon Woo MW; Kim, Man Jin MJ; Park, Kyu Hyung KH; Park, Sung Sup SS; Woo, Se Joon SJ
Publication Date: 2019-06-02
Variant appearance in text: ABCA4: 1906C>A
PubMed Link:
31144483
Variant Present in the following documents:
Main text
jkms-34-e161.pdf
View BVdb publication page