ABCA4 c.1958G>A ;(p.R653H)

Variant ID: 1-94526295-C-T

NM_000350.2(ABCA4):c.1958G>A;(p.R653H)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Scientific Reports
Karali, Marianthi M; Testa, Francesco F; Di Iorio, Valentina V; Torella, Annalaura A; Zeuli, Roberta R; Scarpato, Margherita M; Romano, Francesca F; Onore, Maria Elena ME; Pizzo, Mariateresa M; Melillo, Paolo P; Brunetti-Pierri, Raffaella R; Passerini, Ilaria I; Pelo, Elisabetta E; Cremers, Frans P M FPM; Esposito, Gabriella G; Nigro, Vincenzo V; Simonelli, Francesca F; Banfi, Sandro S
Publication Date: 2022-12-02

Variant appearance in text: ABCA4: 1958G>A; Arg653His
PubMed Link: 36460718
Variant Present in the following documents:
  • 41598_2022_24636_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: 1958G>A; Arg653His
PubMed Link: 35608843
Variant Present in the following documents:
  • iovs-63-5-28_s010.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: 1958G>A; Arg653His
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: 1958G>A; Arg653His
PubMed Link: 35052368
Variant Present in the following documents:
  • Main text
  • genes-13-00027.pdf
View BVdb publication page



A genotype-phenotype correlation matrix for ABCA4 disease based on long-term prognostic outcomes.

Jci Insight
Lee, Winston W; Zernant, Jana J; Su, Pei-Yin PY; Nagasaki, Takayuki T; Tsang, Stephen H SH; Allikmets, Rando R
Publication Date: 2022-01-25

Variant appearance in text: ABCA4: Arg653His
PubMed Link: 34874912
Variant Present in the following documents:
  • jciinsight-7-156154.pdf
  • jciinsight-7-156154-s174.xlsx, sheet 1
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: ABCA4: 1958G>A; Arg653His; rs141823837
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_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: R653H
PubMed Link: 33691693
Variant Present in the following documents:
  • 12920_2021_874_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Functional Characterization of ABCA4 Missense Variants Linked to Stargardt Macular Degeneration.

International Journal Of Molecular Sciences
Garces, Fabian A FA; Scortecci, Jessica F JF; Molday, Robert S RS
Publication Date: 2020-12-27

Variant appearance in text: ABCA4: R653H
PubMed Link: 33375396
Variant Present in the following documents:
  • Main text
  • ijms-22-00185.pdf
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: R653H
PubMed Link: 32884132
Variant Present in the following documents:
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6
View BVdb publication page



Genomic characterization of intrinsic and acquired resistance to cetuximab in colorectal cancer patients.

Scientific Reports
Bray, Steven M SM; Lee, Jeeyun J; Kim, Seung Tae ST; Hur, Joon Young JY; Ebert, Philip J PJ; Calley, John N JN; Wulur, Isabella H IH; Gopalappa, Thejaswini T; Wong, Swee Seong SS; Qian, Hui-Rong HR; Ting, Jason C JC; Liu, Jiangang J; Willard, Melinda D MD; Novosiadly, Ruslan D RD; Park, Young Suk YS; Park, Joon Oh JO; Lim, Ho Yeong HY; Kang, Won Ki WK; Aggarwal, Amit A; Kim, Hee Cheol HC; Reinhard, Christoph C
Publication Date: 2019-10-25

Variant appearance in text: ABCA4: R653H
PubMed Link: 31653970
Variant Present in the following documents:
  • 41598_2019_51981_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Antioxidant Saffron and Central Retinal Function in ABCA4-Related Stargardt Macular Dystrophy.

Nutrients
Piccardi, Marco M; Fadda, Antonello A; Martelli, Francesco F; Marangoni, Dario D; Magli, Adriano A; Minnella, Angelo M AM; Bertelli, Matteo M; Di Marco, Stefano S; Bisti, Silvia S; Falsini, Benedetto B
Publication Date: 2019-10-15

Variant appearance in text: ABCA4: Arg653His
PubMed Link: 31618812
Variant Present in the following documents:
  • Main text
  • nutrients-11-02461.pdf
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs141823837
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: ABCA4: R653H
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page



Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Zaneveld, Jacques J; Siddiqui, Sorath S; Li, Huajin H; Wang, Xia X; Wang, Hui H; Wang, Keqing K; Li, Hui H; Ren, Huanan H; Lopez, Irma I; Dorfman, Allison A; Khan, Ayesha A; Wang, Feng F; Salvo, Jason J; Gelowani, Violet V; Li, Yumei Y; Sui, Ruifang R; Koenekoop, Robert R; Chen, Rui R
Publication Date: 2015-04

Variant appearance in text: ABCA4: 1958G>A
PubMed Link: 25474345
Variant Present in the following documents:
View BVdb publication page