ABCA4 c.2099G>T ;(p.W700L)

Variant ID: 1-94526154-C-A

NM_000350.2(ABCA4):c.2099G>T;(p.W700L)

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:

Kinetics of Heterogeneous Background in Stargardt's Disease over Time.

Life (Basel, Switzerland)
Rodríguez-Bocanegra, Eduardo E; Biarnés, Marc M; Garcia, Míriam M; Ferraro, Lucía Lee LL; Fischer, Manuel Dominik MD; Monés, Jordi J
Publication Date: 2022-03-06

Variant appearance in text: ABCA4: Trp700Leu
PubMed Link: 35330133
Variant Present in the following documents:
  • life-12-00381.pdf
View BVdb publication page