ABCA4 c.3141_3142insT ;(p.D1048*)

Variant ID: 1-94508940-C-CA

NM_000350.2(ABCA4):c.3141_3142insT;(p.D1048*)

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:

ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis.

Molecular Vision
Maia-Lopes, Susana S; Aguirre-Lamban, Jana J; Castelo-Branco, Miguel M; Riveiro-Alvarez, Rosa R; Ayuso, Carmen C; Silva, Eduardo Duarte ED
Publication Date: 2009

Variant appearance in text: STGD: Asp1048fs
PubMed Link: 19365591
Variant Present in the following documents:
  • Main text
  • mv-v15-584.pdf
View BVdb publication page