ABCA4 c.4667G>A ;(p.R1556K)

Variant ID: 1-94488942-C-T

NM_000350.2(ABCA4):c.4667G>A;(p.R1556K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.

Progress In Retinal And Eye Research
Cremers, Frans P M FPM; Lee, Winston W; Collin, Rob W J RWJ; Allikmets, Rando R
Publication Date: 2020-11

Variant appearance in text: ABCA4: 4667G>A
PubMed Link: 32278709
Variant Present in the following documents:
  • Main text
  • nihms-1627942.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: 4667G>A
PubMed Link: 31397521
Variant Present in the following documents:
  • Main text
  • HUMU-40-2365.pdf
  • HUMU-40-2365-s001.pdf
View BVdb publication page