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ABCA4 c.880C>T ;(p.Q294*)
Variant ID: 1-94546253-G-A
NM_000350.2(
ABCA4
):c.880C>T;(p.Q294*)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Nature Communications
Cong, Pei-Kuan PK; Bai, Wei-Yang WY; Li, Jin-Chen JC; Yang, Meng-Yuan MY; Khederzadeh, Saber S; Gai, Si-Rui SR; Li, Nan N; Liu, Yu-Heng YH; Yu, Shi-Hui SH; Zhao, Wei-Wei WW; Liu, Jun-Quan JQ; Sun, Yi Y; Zhu, Xiao-Wei XW; Zhao, Pian-Pian PP; Xia, Jiang-Wei JW; Guan, Peng-Lin PL; Qian, Yu Y; Tao, Jian-Guo JG; Xu, Lin L; Tian, Geng G; Wang, Ping-Yu PY; Xie, Shu-Yang SY; Qiu, Mo-Chang MC; Liu, Ke-Qi KQ; Tang, Bei-Sha BS; Zheng, Hou-Feng HF
Publication Date: 2022-05-26
Variant appearance in text: ABCA4: Q294X; rs794727903
PubMed Link:
35618720
Variant Present in the following documents:
41467_2022_30526_MOESM5_ESM.xlsx, sheet 1
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: Q294X
PubMed Link:
33691693
Variant Present in the following documents:
12920_2021_874_MOESM2_ESM.xlsx, sheet 1
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: 880C>T
PubMed Link:
31814693
Variant Present in the following documents:
Main text
mv-v25-679.pdf
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: 880C>T
PubMed Link:
31144483
Variant Present in the following documents:
Main text
jkms-34-e161.pdf
View BVdb publication page