USH2A c.10074C>A ;(p.C3358*)

Variant ID: 1-215963509-G-T

NM_206933.2(USH2A):c.10074C>A;(p.C3358*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Panel-based genetic testing for inherited retinal disease screening 176 genes.

Molecular Genetics & Genomic Medicine
Sheck, Leo H N LHN; Esposti, Simona D SD; Mahroo, Omar A OA; Arno, Gavin G; Pontikos, Nikolas N; Wright, Genevieve G; Webster, Andrew R AR; Khan, Kamron N KN; Michaelides, Michel M
Publication Date: 2021-12

Variant appearance in text: USH2A: Cys3358Ter
PubMed Link: 33749171
Variant Present in the following documents:
  • MGG3-9-e1663-s001.xlsx, sheet 1
View BVdb publication page



Panel-based genetic testing for inherited retinal disease screening 176 genes.

Molecular Genetics & Genomic Medicine
Sheck, Leo H N LHN; Esposti, Simona D SD; Mahroo, Omar A OA; Arno, Gavin G; Pontikos, Nikolas N; Wright, Genevieve G; Webster, Andrew R AR; Khan, Kamron N KN; Michaelides, Michel M
Publication Date: 2021-03-22

Variant appearance in text: USH2A: Cys3358Ter
PubMed Link: 33749171
Variant Present in the following documents:
  • MGG3-9-e1663-s001.xlsx, sheet 1
View BVdb publication page