ABCA4 c.179C>T ;(p.A60V)

Variant ID: 1-94577117-G-A

NM_000350.2(ABCA4):c.179C>T;(p.A60V)

This variant was identified in 16 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: 179C>T; Ala60Val
PubMed Link: 36460718
Variant Present in the following documents:
  • 41598_2022_24636_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Phenotype-Based Genetic Analysis Reveals Missing Heritability of ABCA4-Related Retinopathy: Deep Intronic Variants and Copy Number Variations.

Investigative Ophthalmology & Visual Science
Tian, Lu L; Chen, Chunjie C; Song, Yuning Y; Zhang, Xiaohui X; Xu, Ke K; Xie, Yue Y; Jin, Zi-Bing ZB; Li, Yang Y
Publication Date: 2022-06-01

Variant appearance in text: STGD: 179C>T
PubMed Link: 35657619
Variant Present in the following documents:
  • iovs-63-6-5_s002.xlsx, sheet 2
  • iovs-63-6-5_s002.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: 179C>T; Ala60Val
PubMed Link: 35608843
Variant Present in the following documents:
  • iovs-63-5-28_s010.pdf
View BVdb publication page



Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research
Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL
Publication Date: 2022-05

Variant appearance in text: ABCA4: 179C>T; Ala60Val; rs55732384
PubMed Link: 35229492
Variant Present in the following documents:
  • PCMR-35-369-s003.xlsx, sheet 6
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: 179C>T; Ala60Val; rs55732384
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_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: A60V
PubMed Link: 32884132
Variant Present in the following documents:
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6
View BVdb publication page



Biofeedback Rehabilitation and Visual Cortex Response in Stargardt's Disease: A Randomized Controlled Trial.

Translational Vision Science & Technology
Melillo, Paolo P; Prinster, Anna A; Di Iorio, Valentina V; Olivo, Gaia G; D'Alterio, Francesco Maria FM; Cocozza, Sirio S; Quarantelli, Mario M; Testa, Francesco F; Brunetti, Arturo A; Simonelli, Francesca F
Publication Date: 2020-05

Variant appearance in text: STGD1: A60V
PubMed Link: 32821503
Variant Present in the following documents:
  • Main text
  • tvst-9-6-6.pdf
View BVdb publication page



An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.

Translational Vision Science & Technology
Wang, Panfeng P; Li, Shiqiang S; Sun, Wenming W; Xiao, Xueshan X; Jia, Xiaoyun X; Liu, Mengchu M; Xu, Lieqiang L; Long, Yuxi Y; Zhang, Qingjiong Q
Publication Date: 2019-03

Variant appearance in text: ABCA4: Ala60Val
PubMed Link: 31106028
Variant Present in the following documents:
  • tvst-08-02-12_s02.xlsx, sheet 1
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: ABCA4: 179C>T; rs55732384
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Genotypic spectrum and phenotype correlations of ABCA4-associated disease in patients of south Asian descent.

European Journal Of Human Genetics : Ejhg
Lee, Winston W; Schuerch, Kaspar K; Zernant, Jana J; Collison, Frederick T FT; Bearelly, Srilaxmi S; Fishman, Gerald A GA; Tsang, Stephen H SH; Sparrow, Janet R JR; Allikmets, Rando R
Publication Date: 2017-06

Variant appearance in text: ABCA4: A60V
PubMed Link: 28327576
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.

Investigative Ophthalmology & Visual Science
Schulz, Heidi L HL; Grassmann, Felix F; Kellner, Ulrich U; Spital, Georg G; Rüther, Klaus K; Jägle, Herbert H; Hufendiek, Karsten K; Rating, Philipp P; Huchzermeyer, Cord C; Baier, Maria J MJ; Weber, Bernhard H F BH; Stöhr, Heidi H
Publication Date: 2017-01-01

Variant appearance in text: STGD: 179C>T
PubMed Link: 28118664
Variant Present in the following documents:
  • Main text
  • iovs-57-15-69_s04.pdf
  • iovs-57-15-69_s01.pdf
  • iovs-57-15-69_s05.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: ABCA4: 179C>T; A60V
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: ABCA4: A60V
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: STGD1: A60V
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: ABCA4: A60V
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Macular function and morphologic features in juvenile stargardt disease: longitudinal study.

Ophthalmology
Testa, Francesco F; Melillo, Paolo P; Di Iorio, Valentina V; Orrico, Ada A; Attanasio, Marcella M; Rossi, Settimio S; Simonelli, Francesca F
Publication Date: 2014-12

Variant appearance in text: ABCA4: A60V
PubMed Link: 25097154
Variant Present in the following documents:
  • Main text
View BVdb publication page