USH2A c.15208G>T ;(p.E5070*)

Variant ID: 1-215807890-C-A

NM_206933.2(USH2A):c.15208G>T;(p.E5070*)

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:

Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations.

Scientific Reports
Eandi, Chiara M CM; Dallorto, Laura L; Spinetta, Roberta R; Micieli, Maria Pia MP; Vanzetti, Mario M; Mariottini, Alessandro A; Passerini, Ilaria I; Torricelli, Francesca F; Alovisi, Camilla C; Marchese, Cristiana C
Publication Date: 2017-11-15

Variant appearance in text: USH2: Glu5070*
PubMed Link: 29142287
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_16014.pdf
View BVdb publication page