ABCA4 c.3442A>G ;(p.K1148E)

Variant ID: 1-94506845-T-C

NM_000350.2(ABCA4):c.3442A>G;(p.K1148E)

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:

Genetic loci that control the size of laser-induced choroidal neovascularization.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology
Nakai, Kei K; Rogers, Michael S MS; Baba, Takashi T; Funakoshi, Taisaku T; Birsner, Amy E AE; Luyindula, Dema S DS; D'Amato, Robert J RJ
Publication Date: 2009-07

Variant appearance in text: ABCA4: K1148E
PubMed Link: 19237505
Variant Present in the following documents:
  • Main text
View BVdb publication page