ABCA4 c.4553G>A ;(p.S1518N)

Variant ID: 1-94490591-C-T

NM_000350.2(ABCA4):c.4553G>A;(p.S1518N)

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:

Exome sequencing study of 20 patients with high myopia.

Peerj
Wan, Ling L; Deng, Boling B; Wu, Zhengzheng Z; Chen, Xiaoming X
Publication Date: 2018

Variant appearance in text: ABCA4: 4553G>A; Ser1518Asn
PubMed Link: 30245926
Variant Present in the following documents:
  • Main text
  • peerj-06-5552.pdf
View BVdb publication page