USH2A c.7394_7451+1del

Variant ID: 1-216074095-ACTCTAGAAATCCATGGGTGGAGTCGCCAGACCTCATCTGGAGTTGGTATCTGGGAGAGC-A

NM_206933.2(USH2A):c.7394_7451+1del

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome.

Molecular Genetics & Genomic Medicine
Krawitz, Peter M PM; Schiska, Daniela D; Krüger, Ulrike U; Appelt, Sandra S; Heinrich, Verena V; Parkhomchuk, Dmitri D; Timmermann, Bernd B; Millan, Jose M JM; Robinson, Peter N PN; Mundlos, Stefan S; Hecht, Jochen J; Gross, Manfred M
Publication Date: 2014-09

Variant appearance in text: USH2A: 6806_7451del
PubMed Link: 25333064
Variant Present in the following documents:
  • Main text
  • mgg30002-0393.pdf
View BVdb publication page