ABCA4 c.4467_4468insGAAA ;(p.C1490Efs*66)

Variant ID: 1-94495072-A-ATTTC

NM_000350.2(ABCA4):c.4467_4468insGAAA;(p.C1490Efs*66)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease.

American Journal Of Human Genetics
Albert, Silvia S; Garanto, Alejandro A; Sangermano, Riccardo R; Khan, Mubeen M; Bax, Nathalie M NM; Hoyng, Carel B CB; Zernant, Jana J; Lee, Winston W; Allikmets, Rando R; Collin, Rob W J RWJ; Cremers, Frans P M FPM
Publication Date: 2018-04-05

Variant appearance in text: ABCA4: Cys1490Glufs
PubMed Link: 29526278
Variant Present in the following documents:
  • Main text
View BVdb publication page



ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.

Genome Research
Sangermano, Riccardo R; Khan, Mubeen M; Cornelis, Stéphanie S SS; Richelle, Valerie V; Albert, Silvia S; Garanto, Alejandro A; Elmelik, Duaa D; Qamar, Raheel R; Lugtenberg, Dorien D; van den Born, L Ingeborgh LI; Collin, Rob W J RWJ; Cremers, Frans P M FPM
Publication Date: 2018-01

Variant appearance in text: STGD1: Cys1490Glufs
PubMed Link: 29162642
Variant Present in the following documents:
  • 100.pdf
View BVdb publication page