ABCA4 c.2160+584A>G

Variant ID: 1-94525509-T-C

NM_000350.2(ABCA4):c.2160+584A>G

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients.

Translational Vision Science & Technology
Tuupanen, Sari S; Gall, Kimberly K; Sistonen, Johanna J; Saarinen, Inka I; Kämpjärvi, Kati K; Wells, Kirsty K; Merkkiniemi, Katja K; von Nandelstadh, Pernilla P; Sarantaus, Laura L; Känsäkoski, Johanna J; Mårtenson, Emma E; Västinsalo, Hanna H; Schleit, Jennifer J; Sankila, Eeva-Marja EM; Kere, Annakarin A; Junnila, Heidi H; Siivonen, Pauli P; Andreevskaya, Margarita M; Kytölä, Ville V; Muona, Mikko M; Salmenperä, Pertteli P; Myllykangas, Samuel S; Koskenvuo, Juha J; Alastalo, Tero-Pekka TP
Publication Date: 2022-01-03

Variant appearance in text: ABCA4: 2160+584A>G
PubMed Link: 34985506
Variant Present in the following documents:
  • tvst-11-1-6_s001.pdf
View BVdb publication page



Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients.

Translational Vision Science & Technology
Tuupanen, Sari S; Gall, Kimberly K; Sistonen, Johanna J; Saarinen, Inka I; Kämpjärvi, Kati K; Wells, Kirsty K; Merkkiniemi, Katja K; von Nandelstadh, Pernilla P; Sarantaus, Laura L; Känsäkoski, Johanna J; Mårtenson, Emma E; Västinsalo, Hanna H; Schleit, Jennifer J; Sankila, Eeva-Marja EM; Kere, Annakarin A; Junnila, Heidi H; Siivonen, Pauli P; Andreevskaya, Margarita M; Kytölä, Ville V; Muona, Mikko M; Salmenperä, Pertteli P; Myllykangas, Samuel S; Koskenvuo, Juha J; Alastalo, Tero-Pekka TP
Publication Date: 2022-01-03

Variant appearance in text: ABCA4: 2160+584A>G
PubMed Link: 34985506
Variant Present in the following documents:
  • tvst-11-1-6_s001.pdf
View BVdb publication page



Retinal Pigment Epithelium Atrophy in Recessive Stargardt Disease as Measured by Short-Wavelength and Near-Infrared Autofluorescence.

Translational Vision Science & Technology
Jauregui, Ruben R; Nuzbrokh, Yan Y; Su, Pei-Yin PY; Zernant, Jana J; Allikmets, Rando R; Tsang, Stephen H SH; Sparrow, Janet R JR
Publication Date: 2021-01

Variant appearance in text: ABCA4: 2160+584A>G
PubMed Link: 33505770
Variant Present in the following documents:
  • tvst-10-1-3_s002.pdf
View BVdb publication page



Prevalence of ABCA4 Deep-Intronic Variants and Related Phenotype in An Unsolved "One-Hit" Cohort with Stargardt Disease.

International Journal Of Molecular Sciences
Nassisi, Marco M; Mohand-Saïd, Saddek S; Andrieu, Camille C; Antonio, Aline A; Condroyer, Christel C; Méjécase, Cécile C; Varin, Juliette J; Wohlschlegel, Juliette J; Dhaenens, Claire-Marie CM; Sahel, José-Alain JA; Zeitz, Christina C; Audo, Isabelle I
Publication Date: 2019-10-11

Variant appearance in text: ABCA4: 2160+584A>G
PubMed Link: 31614660
Variant Present in the following documents:
  • ijms-20-05053-s001.pdf
View BVdb publication page



Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4.

Human Mutation
Fadaie, Zeinab Z; Khan, Mubeen M; Del Pozo-Valero, Marta M; Cornelis, Stéphanie S SS; Ayuso, Carmen C; Cremers, Frans P M FPM; Roosing, Susanne S; The Abca Study Group,
Publication Date: 2019-12

Variant appearance in text: ABCA4: 2160+584A>G
PubMed Link: 31397521
Variant Present in the following documents:
  • Main text
  • HUMU-40-2365.pdf
  • HUMU-40-2365-s001.pdf
View BVdb publication page



Photoreceptor cells as a source of fundus autofluorescence in recessive Stargardt disease.

Journal Of Neuroscience Research
Paavo, Maarjaliis M; Lee, Winston W; Allikmets, Rando R; Tsang, Stephen S; Sparrow, Janet R JR
Publication Date: 2019-01

Variant appearance in text: ABCA4: 2160+584A>G
PubMed Link: 29701254
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multimodal analysis of the Preferred Retinal Location and the Transition Zone in patients with Stargardt Disease.

Graefe'S Archive For Clinical And Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie
Verdina, Tommaso T; Greenstein, Vivienne C VC; Sodi, Andrea A; Tsang, Stephen H SH; Burke, Tomas R TR; Passerini, Ilaria I; Allikmets, Rando R; Virgili, Gianni G; Cavallini, Gian Maria GM; Rizzo, Stanislao S
Publication Date: 2017-07

Variant appearance in text: ABCA4: 2160+584A>G
PubMed Link: 28365912
Variant Present in the following documents:
  • Main text
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: ABCA4: 2160+584A>G
PubMed Link: 25082829
Variant Present in the following documents:
  • Main text
View BVdb publication page