ABCA4 c.3470T>G ;(p.L1157*)

Variant ID: 1-94506817-A-C

NM_000350.2(ABCA4):c.3470T>G;(p.L1157*)

This variant was identified in 6 publications

View GRCh38 version.




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



Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.

Genes
Moon, Dabin D; Park, Hye Won HW; Surl, Dongheon D; Won, Dongju D; Lee, Seung-Tae ST; Shin, Saeam S; Choi, Jong Rak JR; Han, Jinu J
Publication Date: 2021-12-23

Variant appearance in text: ABCA4: 3470T>G; Leu1157*
PubMed Link: 35052368
Variant Present in the following documents:
  • Main text
  • genes-13-00027.pdf
View BVdb publication page



Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.

Genes
Moon, Dabin D; Park, Hye Won HW; Surl, Dongheon D; Won, Dongju D; Lee, Seung-Tae ST; Shin, Saeam S; Choi, Jong Rak JR; Han, Jinu J
Publication Date: 2021-12-23

Variant appearance in text: ABCA4: 3470T>G; Leu1157*
PubMed Link: 35052368
Variant Present in the following documents:
  • Main text
  • genes-13-00027.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



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: 3470T>G
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: 3470T>G
PubMed Link: 31144483
Variant Present in the following documents:
  • Main text
  • jkms-34-e161.pdf
View BVdb publication page



Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes.

Cold Spring Harbor Molecular Case Studies
Zernant, Jana J; Lee, Winston W; Nagasaki, Takayuki T; Collison, Frederick T FT; Fishman, Gerald A GA; Bertelsen, Mette M; Rosenberg, Thomas T; Gouras, Peter P; Tsang, Stephen H SH; Allikmets, Rando R
Publication Date: 2018-08

Variant appearance in text: ABCA4: 3470T>G
PubMed Link: 29848554
Variant Present in the following documents:
  • Main text
  • MCS002733Zer.pdf
View BVdb publication page