ABCA4 c.36G>A ;(p.W12*)

Variant ID: 1-94586566-C-T

NM_000350.2(ABCA4):c.36G>A;(p.W12*)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles.

Journal Of Ophthalmology
Smaragda, Kamakari K; Vassiliki, Kokkinou K; George, Koutsodontis K; Polixeni, Stamatiou S; Christoforos, Giatzakis G; Anastasios, Anastasakis A; Minas, Aslanides Ioannis AI; Stavrenia, Koukoula K; Theoni, Panagiotoglou P; Ioannis, Datseris D; Miltiadis, Tsilimbaris K TK
Publication Date: 2018

Variant appearance in text: ABCA4: 36G>A; rs761209432
PubMed Link: 29854428
Variant Present in the following documents:
  • Main text
  • JOPH2018-5706142.pdf
View BVdb publication page