ABCA4 c.5197_5198del ;(p.M1733Efs*53)

Variant ID: 1-94481409-CAT-C

NM_000350.2(ABCA4):c.5197_5198del;(p.M1733Efs*53)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Comparisons Among Optical Coherence Tomography and Fundus Autofluorescence Modalities as Measurements of Atrophy in ABCA4-Associated Disease.

Translational Vision Science & Technology
Parmann, Rait R; Tsang, Stephen H SH; Zernant, Jana J; Allikmets, Rando R; Greenstein, Vivienne C VC; Sparrow, Janet R JR
Publication Date: 2022-01-03

Variant appearance in text: ABCA4: Met1733Glufs
PubMed Link: 35089312
Variant Present in the following documents:
  • Main text
  • tvst-11-1-36.pdf
View BVdb publication page



Comparisons Among Optical Coherence Tomography and Fundus Autofluorescence Modalities as Measurements of Atrophy in ABCA4-Associated Disease.

Translational Vision Science & Technology
Parmann, Rait R; Tsang, Stephen H SH; Zernant, Jana J; Allikmets, Rando R; Greenstein, Vivienne C VC; Sparrow, Janet R JR
Publication Date: 2022-01-03

Variant appearance in text: ABCA4: Met1733Glufs
PubMed Link: 35089312
Variant Present in the following documents:
  • Main text
  • tvst-11-1-36.pdf
View BVdb publication page



Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease.

Molecular Therapy. Nucleic Acids
Khan, Mubeen M; Arno, Gavin G; Fakin, Ana A; Parfitt, David A DA; Dhooge, Patty P A PPA; Albert, Silvia S; Bax, Nathalie M NM; Duijkers, Lonneke L; Niblock, Michael M; Hau, Kwan L KL; Bloch, Edward E; Schiff, Elena R ER; Piccolo, Davide D; Hogden, Michael C MC; Hoyng, Carel B CB; Webster, Andrew R AR; Cremers, Frans P M FPM; Cheetham, Michael E ME; Garanto, Alejandro A; Collin, Rob W J RWJ
Publication Date: 2020-09-04

Variant appearance in text: STGD1: M1733Efs
PubMed Link: 32653833
Variant Present in the following documents:
  • Main text
View BVdb publication page