USH2A c.6778T>C ;(p.S2260P)

Variant ID: 1-216166389-A-G

NM_206933.2(USH2A):c.6778T>C;(p.S2260P)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population.

Biomedicines
Spedicati, Beatrice B; Santin, Aurora A; Nardone, Giuseppe Giovanni GG; Rubinato, Elisa E; Lenarduzzi, Stefania S; Graziano, Claudio C; Garavelli, Livia L; Miccoli, Sara S; Bigoni, Stefania S; Morgan, Anna A; Girotto, Giorgia G
Publication Date: 2023-02-24

Variant appearance in text: USH2A: 6778T>C; Ser2260Pro
PubMed Link: 36979683
Variant Present in the following documents:
  • Main text
  • biomedicines-11-00703.pdf
View BVdb publication page



Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Zampaglione, Erin E; Kinde, Benyam B; Place, Emily M EM; Navarro-Gomez, Daniel D; Maher, Matthew M; Jamshidi, Farzad F; Nassiri, Sherwin S; Mazzone, J Alex JA; Finn, Caitlin C; Schlegel, Dana D; Comander, Jason J; Pierce, Eric A EA; Bujakowska, Kinga M KM
Publication Date: 2020-06

Variant appearance in text: USH2A: 6778T>C; Ser2260Pro
PubMed Link: 32037395
Variant Present in the following documents:
  • 41436_2020_759_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.

Journal Of Medical Genetics
McGee, Terri L TL; Seyedahmadi, Babak Jian BJ; Sweeney, Meredith O MO; Dryja, Thaddeus P TP; Berson, Eliot L EL
Publication Date: 2010-07

Variant appearance in text: USH2: 6778T>C
PubMed Link: 20507924
Variant Present in the following documents:
  • Main text
View BVdb publication page