ABCA4 c.2385C>T ;(p.S795=)

Variant ID: 1-94520869-G-A

NM_000350.2(ABCA4):c.2385C>T;(p.S795=)

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:

Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.

Investigative Ophthalmology & Visual Science
Alapati, Akhila A; Goetz, Kerry K; Suk, John J; Navani, Mili M; Al-Tarouti, Amani A; Jayasundera, Thiran T; Tumminia, Santa J SJ; Lee, Pauline P; Ayyagari, Radha R
Publication Date: 2014-07-31

Variant appearance in text: ABCA4: 2385C>T
PubMed Link: 25082885
Variant Present in the following documents:
  • Main text
View BVdb publication page