ABCA4 c.3984_3987del ;(p.H1328Qfs*60)

Variant ID: 1-94497474-CTGGG-C

NM_000350.2(ABCA4):c.3984_3987del;(p.H1328Qfs*60)

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:

Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.

Clinical Ophthalmology (Auckland, N.Z.)
Bryant, Laura L; Lozynska, Olga O; Maguire, Albert M AM; Aleman, Tomas S TS; Bennett, Jean J
Publication Date: 2018

Variant appearance in text: ABCA4: 3984_3987del; His1328Glnfs
PubMed Link: 29343940
Variant Present in the following documents:
  • Main text
View BVdb publication page