ABCA4 c.3190G>C ;(p.G1064R)

Variant ID: 1-94508892-C-G

NM_000350.2(ABCA4):c.3190G>C;(p.G1064R)

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 analysis identifies novel homozygous mutation in ABCA4 in a Chinese family with Stargardt disease.

International Journal Of Ophthalmology
Hao, Xiao-Dan XD; Liu, Ying Y; Li, Bao-Wei BW; Wu, Wei W; Zhao, Xiao-Wen XW
Publication Date: 2020

Variant appearance in text: ABCA4: 3190G>C
PubMed Link: 32399422
Variant Present in the following documents:
  • Main text
View BVdb publication page