ABCA4 c.6387C>G ;(p.S2129R)

Variant ID: 1-94466484-G-C

NM_000350.2(ABCA4):c.6387C>G;(p.S2129R)

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:

In or Out? New Insights on Exon Recognition through Splice-Site Interdependency.

International Journal Of Molecular Sciences
Khan, Mubeen M; Cornelis, Stéphanie S SS; Sangermano, Riccardo R; Post, Iris J M IJM; Groesbeek, Amber Janssen AJ; Amsu, Jan J; Gilissen, Christian C; Garanto, Alejandro A; Collin, Rob W J RWJ; Cremers, Frans P M FPM
Publication Date: 2020-03-26

Variant appearance in text: ABCA4: 6387C>G
PubMed Link: 32225107
Variant Present in the following documents:
  • Main text
  • ijms-21-02300.pdf
View BVdb publication page