ABCA4 c.5329A>G ;(p.M1777V)

Variant ID: 1-94480230-T-C

NM_000350.2(ABCA4):c.5329A>G;(p.M1777V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: ABCA4: M1777V
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Findings from a Genotyping Study of Over 1000 People with Inherited Retinal Disorders in Ireland.

Genes
Whelan, Laura L; Dockery, Adrian A; Wynne, Niamh N; Zhu, Julia J; Stephenson, Kirk K; Silvestri, Giuliana G; Turner, Jacqueline J; O'Byrne, James J JJ; Carrigan, Matthew M; Humphries, Peter P; Keegan, David D; Kenna, Paul F PF; Farrar, G Jane GJ
Publication Date: 2020-01-16

Variant appearance in text: STGD1: 5329A>G
PubMed Link: 31963381
Variant Present in the following documents:
  • Main text
  • genes-11-00105.pdf
View BVdb publication page