ABCA4 c.4203del ;(p.A1402Lfs*2)

Variant ID: 1-94496601-CG-C

NM_000350.2(ABCA4):c.4203del;(p.A1402Lfs*2)

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:

Identification of Four Novel Variants and Determination of Genotype-Phenotype Correlations for ABCA4 Variants Associated With Inherited Retinal Degenerations.

Frontiers In Cell And Developmental Biology
Zhu, Qing Q; Rui, Xue X; Li, Ya Y; You, Ya Y; Sheng, Xun-Lun XL; Lei, Bo B
Publication Date: 2021

Variant appearance in text: STGD1: 4203delC
PubMed Link: 33732702
Variant Present in the following documents:
  • Main text
  • fcell-09-634843.pdf
View BVdb publication page