ABCA4 c.6543C>T ;(p.D2181=)

Variant ID: 1-94463603-G-A

NM_000350.2(ABCA4):c.6543C>T;(p.D2181=)

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:

Retinal phenotypic characterization of patients with ABCA4 retinopathydue to the homozygous p.Ala1773Val mutation.

Molecular Vision
López-Rubio, Salvador S; Chacon-Camacho, Oscar F OF; Matsui, Rodrigo R; Guadarrama-Vallejo, Dalia D; Astiazarán, Mirena C MC; Zenteno, Juan C JC
Publication Date: 2018

Variant appearance in text: ABCA4: 6543C>T
PubMed Link: 29422768
Variant Present in the following documents:
  • Main text
  • mv-v24-105.pdf
View BVdb publication page