ABCA4 c.6558G>A ;(p.E2186=)

Variant ID: 1-94463588-C-T

NM_000350.2(ABCA4):c.6558G>A;(p.E2186=)

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:

Whole exome sequencing reveals novel EYS mutations in Chinese patients with autosomal recessive retinitis pigmentosa.

Molecular Vision
Xiao, Xiaoqiang X; Cao, Yingjie Y; Chen, Shaowan S; Chen, Min M; Mai, Xiaoting X; Zheng, Yuqian Y; Zhuang, Xi X; Ng, Tsz Kin TK; Chen, Haoyu H
Publication Date: 2019

Variant appearance in text: ABCA4: Glu2186Glu
PubMed Link: 30804660
Variant Present in the following documents:
  • Main text
  • mv-v25-35.pdf
View BVdb publication page