USH2A c.13355T>C ;(p.L4452S)

Variant ID: 1-215847898-A-G

NM_206933.2(USH2A):c.13355T>C;(p.L4452S)

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:

Gene panel sequencing in Brazilian patients with retinitis pigmentosa.

International Journal Of Retina And Vitreous
Costa, Kárita Antunes KA; Salles, Mariana Vallim MV; Whitebirch, Chris C; Chiang, John J; Sallum, Juliana Maria Ferraz JMF
Publication Date: 2017

Variant appearance in text: USH2A: Leu4452Ser
PubMed Link: 28912962
Variant Present in the following documents:
  • Main text
View BVdb publication page