ABCA4 c.6730_6731delinsTA ;(p.V2244*)

Variant ID: 1-94461750-AC-TA

NM_000350.2(ABCA4):c.6730_6731delinsTA;(p.V2244*)

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:

Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.

Progress In Retinal And Eye Research
Cremers, Frans P M FPM; Lee, Winston W; Collin, Rob W J RWJ; Allikmets, Rando R
Publication Date: 2020-11

Variant appearance in text: STGD1: Val2244*
PubMed Link: 32278709
Variant Present in the following documents:
  • Main text
  • nihms-1627942.pdf
View BVdb publication page