ABCA4 c.6342G>C ;(p.V2114=)

Variant ID: 1-94466602-C-G

NM_000350.2(ABCA4):c.6342G>C;(p.V2114=)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Identification of numerous novel disease-causing variants in patients with inherited retinal diseases, combining careful clinical-functional phenotyping with systematic, broad NGS panel-based genotyping.

Molecular Vision
Gupta, Priya R PR; Kheir, Wajiha W; Peng, Bo B; Duan, Jie J; Chiang, John P-W JP; Iannaccone, Alessandro A
Publication Date: 2022

Variant appearance in text: ABCA4: Val2114Val
PubMed Link: 36284670
Variant Present in the following documents:
  • Main text
  • mv-v28-203.pdf
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: Val2114Val; rs61748520
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: V2114V
PubMed Link: 32884132
Variant Present in the following documents:
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6
View BVdb publication page



Analysis of the ABCA4 genomic locus in Stargardt disease.

Human Molecular Genetics
Zernant, Jana J; Xie, Yajing Angela YA; Ayuso, Carmen C; Riveiro-Alvarez, Rosa R; Lopez-Martinez, Miguel-Angel MA; Simonelli, Francesca F; Testa, Francesco F; Gorin, Michael B MB; Strom, Samuel P SP; Bertelsen, Mette M; Rosenberg, Thomas T; Boone, Philip M PM; Yuan, Bo B; Ayyagari, Radha R; Nagy, Peter L PL; Tsang, Stephen H SH; Gouras, Peter P; Collison, Frederick T FT; Lupski, James R JR; Fishman, Gerald A GA; Allikmets, Rando R
Publication Date: 2014-12-20

Variant appearance in text: N/A
PubMed Link: 25082829
Variant Present in the following documents:
View BVdb publication page



Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.

Human Molecular Genetics
Braun, Terry A TA; Mullins, Robert F RF; Wagner, Alex H AH; Andorf, Jeaneen L JL; Johnston, Rebecca M RM; Bakall, Benjamin B BB; Deluca, Adam P AP; Fishman, Gerald A GA; Lam, Byron L BL; Weleber, Richard G RG; Cideciyan, Artur V AV; Jacobson, Samuel G SG; Sheffield, Val C VC; Tucker, Budd A BA; Stone, Edwin M EM
Publication Date: 2013-12-20

Variant appearance in text: N/A
PubMed Link: 23918662
Variant Present in the following documents:
View BVdb publication page



Analysis of the ABCA4 gene by next-generation sequencing.

Investigative Ophthalmology & Visual Science
Zernant, Jana J; Schubert, Carl C; Im, Kate M KM; Burke, Tomas T; Brown, Carolyn M CM; Fishman, Gerald A GA; Tsang, Stephen H SH; Gouras, Peter P; Dean, Michael M; Allikmets, Rando R
Publication Date: 2011-10-31

Variant appearance in text: ABCA4: V2114V; rs61748520
PubMed Link: 21911583
Variant Present in the following documents:
  • Main text
View BVdb publication page