ABCA4 c.5684_5685del ;(p.L1895Rfs*16)

Variant ID: 1-94476385-CCA-C

NM_000350.2(ABCA4):c.5684_5685del;(p.L1895Rfs*16)

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:

Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland.

Genes
Tracewska, Anna M AM; Kocyła-Karczmarewicz, Beata B; Rafalska, Agnieszka A; Murawska, Joanna J; Jakubaszko-Jablonska, Joanna J; Rydzanicz, Małgorzata M; Stawiński, Piotr P; Ciara, Elżbieta E; Khan, Muhammad Imran MI; Henkes, Arjen A; Hoischen, Alexander A; Gilissen, Christian C; van de Vorst, Maartje M; Cremers, Frans P M FPM; Płoski, Rafał R; Chrzanowska, Krystyna H KH
Publication Date: 2019-11-21

Variant appearance in text: STGD: 5684_5685delTG
PubMed Link: 31766579
Variant Present in the following documents:
  • Main text
  • genes-10-00959.pdf
View BVdb publication page