ABCA4 c.5792_5793delinsAG ;(p.G1931E)

Variant ID: 1-94474349-AC-CT

NM_000350.2(ABCA4):c.5792_5793delinsAG;(p.G1931E)

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:

Rare Genetic Variants in Jewish Patients Suffering from Age-Related Macular Degeneration.

Genes
Shoshany, Nadav N; Weiner, Chen C; Safir, Margarita M; Einan-Lifshitz, Adi A; Pokroy, Russell R; Kol, Ayala A; Modai, Shira S; Shomron, Noam N; Pras, Eran E
Publication Date: 2019-10-18

Variant appearance in text: ABCA4: G1931E
PubMed Link: 31635417
Variant Present in the following documents:
  • Main text
  • genes-10-00825.pdf
View BVdb publication page