ABCA4 c.302+26A>C

Variant ID: 1-94576968-T-G

NM_000350.2(ABCA4):c.302+26A>C

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Polygenic Risk Score Impact on Susceptibility to Age-Related Macular Degeneration in Polish Patients.

Journal Of Clinical Medicine
Wąsowska, Anna A; Teper, Sławomir S; Matczyńska, Ewa E; Łyszkiewicz, Przemysław P; Sendecki, Adam A; Machalińska, Anna A; Wylęgała, Edward E; Boguszewska-Chachulska, Anna A
Publication Date: 2022-12-30

Variant appearance in text: rs2297634
PubMed Link: 36615095
Variant Present in the following documents:
  • Main text
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs2297634
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs2297634
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Mutation Screening of Six Exons of ABCA4 in Iranian Stargardt Disease Patients.

Journal Of Ophthalmic & Vision Research
Darbari, Ensieh E; Ahmadieh, Hamid H; Daftarian, Narsis N; Rezaei Kanavi, Mozhgan M; Suri, Fatemeh F; Sabbaghi, Hamideh H; Elahi, Elahe E
Publication Date: 2022

Variant appearance in text: rs2297634
PubMed Link: 35194496
Variant Present in the following documents:
  • jovr-17-51.pdf
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs2297634
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.

Bmc Ophthalmology
Xing, Dongjun D; Zhou, Huaiyu H; Yu, Rongguo R; Wang, Linni L; Hu, Liying L; Li, Zhiqing Z; Li, Xiaorong X
Publication Date: 2020-12-10

Variant appearance in text: rs2297634
PubMed Link: 33302902
Variant Present in the following documents:
  • 12886_2020_1711_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs2297634
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs2297634
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
View BVdb publication page



Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics
Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A
Publication Date: 2014-12-11

Variant appearance in text: rs2297634
PubMed Link: 25496518
Variant Present in the following documents:
  • 40246_2014_20_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Using current data to define new approach in age related macular degeneration: need to accelerate translational research.

Current Genomics
Anand, Akshay A; Sharma, Kaushal K; Chen, Wei W; Sharma, Neel Kamal NK
Publication Date: 2014-08

Variant appearance in text: rs2297634
PubMed Link: 25132797
Variant Present in the following documents:
  • Main text
  • CG-15-266.pdf
View BVdb publication page



Acquired copy-neutral loss of heterozygosity of chromosome 1p as a molecular event associated with marrow fibrosis in MPL-mutated myeloproliferative neoplasms.

Blood
Rumi, Elisa E; Pietra, Daniela D; Guglielmelli, Paola P; Bordoni, Roberta R; Casetti, Ilaria I; Milanesi, Chiara C; Sant'Antonio, Emanuela E; Ferretti, Virginia V; Pancrazzi, Alessandro A; Rotunno, Giada G; Severgnini, Marco M; Pietrelli, Alessandro A; Astori, Cesare C; Fugazza, Elena E; Pascutto, Cristiana C; Boveri, Emanuela E; Passamonti, Francesco F; De Bellis, Gianluca G; Vannucchi, Alessandro A; Cazzola, Mario M; ,
Publication Date: 2013-05-23

Variant appearance in text: rs2297634
PubMed Link: 23575445
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association analyses of genetic, phenotypic, and environmental risks in the age-related eye disease study.

Molecular Vision
Ryu, Euijung E; Fridley, Brooke L BL; Tosakulwong, Nirubol N; Bailey, Kent R KR; Edwards, Albert O AO
Publication Date: 2010-12-17

Variant appearance in text: rs2297634
PubMed Link: 21197116
Variant Present in the following documents:
  • Main text
  • mv-v16-2811.pdf
View BVdb publication page