ABCA4 c.1760+2T>C

Variant ID: 1-94528666-A-G

NM_000350.2(ABCA4):c.1760+2T>C

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:

Absence of Genotype/Phenotype Correlations Requires Molecular Diagnostic to Ascertain Stargardt and Stargardt-Like Swiss Patients.

Genes
Buhler, Virginie M M VMM; Berger, Lieselotte L; Schaller, André A; Zinkernagel, Martin S MS; Wolf, Sebastian S; Escher, Pascal P
Publication Date: 2021-05-26

Variant appearance in text: ABCA4: 1760+2T>C
PubMed Link: 34073554
Variant Present in the following documents:
  • Main text
  • genes-12-00812.pdf
View BVdb publication page