USH2A c.15199del ;(p.I5067Sfs*23)

Variant ID: 1-215807898-AT-A

NM_206933.2(USH2A):c.15199del;(p.I5067Sfs*23)

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:

USH2A-Related Retinitis Pigmentosa: Staging of Disease Severity and Morpho-Functional Studies.

Diagnostics (Basel, Switzerland)
Falsini, Benedetto B; Placidi, Giorgio G; De Siena, Elisa E; Savastano, Maria Cristina MC; Minnella, Angelo Maria AM; Maceroni, Martina M; Midena, Giulia G; Ziccardi, Lucia L; Parisi, Vincenzo V; Bertelli, Matteo M; Maltese, Paolo Enrico PE; Chiurazzi, Pietro P; Rizzo, Stanislao S
Publication Date: 2021-02-01

Variant appearance in text: USH2A: 15199del
PubMed Link: 33535592
Variant Present in the following documents:
  • Main text
  • diagnostics-11-00213.pdf
View BVdb publication page