ABCA4 c.592_594delinsTTT ;(p.L198F)

Variant ID: 1-94564524-CAG-AAA

NM_000350.2(ABCA4):c.592_594delinsTTT;(p.L198F)

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:

Very long chain fatty acid-containing lipids: a decade of novel insights from the study of ELOVL4.

Journal Of Lipid Research
Yeboah, Gyening Kofi GK; Lobanova, Ekaterina S ES; Brush, Richard S RS; Agbaga, Martin-Paul MP
Publication Date: 2021

Variant appearance in text: STGD1: L198F
PubMed Link: 33556440
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page


Very long chain fatty acid-containing lipids: a decade of novel insights from the study of ELOVL4.

Journal Of Lipid Research
Yeboah, Gyening Kofi GK; Lobanova, Ekaterina S ES; Brush, Richard S RS; Agbaga, Martin-Paul MP
Publication Date: 2021-02-06

Variant appearance in text: STGD1: L198F
PubMed Link: 33556440
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page