USH2A c.7352T>C ;(p.L2451P)

Variant ID: 1-216074196-A-G

NM_206933.2(USH2A):c.7352T>C;(p.L2451P)

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:

Genome Editing in Patient iPSCs Corrects the Most Prevalent USH2A Mutations and Reveals Intriguing Mutant mRNA Expression Profiles.

Molecular Therapy. Methods & Clinical Development
Sanjurjo-Soriano, Carla C; Erkilic, Nejla N; Baux, David D; Mamaeva, Daria D; Hamel, Christian P CP; Meunier, Isabelle I; Roux, Anne-Françoise AF; Kalatzis, Vasiliki V
Publication Date: 2020-06-12

Variant appearance in text: USH2A: 7352T>C
PubMed Link: 31909088
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • mmc2.pdf
  • main.pdf
View BVdb publication page