ABCA4 c.5460G>A ;(p.R1820=)

Variant ID: 1-94480099-C-T

NM_000350.2(ABCA4):c.5460G>A;(p.R1820=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Extending the spectrum of CLRN1- and ABCA4-associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing.

Molecular Genetics & Genomic Medicine
Abu-Ameerh, Mohammed M; Mohammad, Hashim H; Dardas, Zain Z; Barham, Raghda R; Ali, Dema D; Bijawi, Maysa M; Tawalbeh, Mohamed M; Amr, Sami S; Hatmal, Ma'mon M MM; Al-Bdour, Muawyah M; Awidi, Abdalla A; Azab, Belal B
Publication Date: 2020-03

Variant appearance in text: ABCA4: 5460G>A
PubMed Link: 31968401
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1123.pdf
View BVdb publication page