USH2A c.13040_13062delinsTCAGAAGTCA ;(p.T4347Ifs*22)

Variant ID: 1-215848191-AGCCTCCAGAGTTGTGATGCTGG-TGACTTCTGA

NM_206933.2(USH2A):c.13040_13062delinsTCAGAAGTCA;(p.T4347Ifs*22)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Vestibular phenotype-genotype correlation in a cohort of 90 patients with Usher syndrome.

Clinical Genetics
Wafa, Talah T TT; Faridi, Rabia R; King, Kelly A KA; Zalewski, Christopher C; Yousaf, Rizwan R; Schultz, Julie M JM; Morell, Robert J RJ; Muskett, Julie J; Turriff, Amy A; Tsilou, Ekaterini E; Griffith, Andrew J AJ; Friedman, Thomas B TB; Zein, Wadih M WM; Brewer, Carmen C CC
Publication Date: 2021-02

Variant appearance in text: USH2A: 13040_13062delinsTCAGAAGTCA
PubMed Link: 33089500
Variant Present in the following documents:
  • Main text
  • CGE-99-226.pdf
View BVdb publication page