USH2A c.9213G>A ;(p.S3071=)

Variant ID: 1-216017681-C-T

NM_206933.2(USH2A):c.9213G>A;(p.S3071=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05

Variant appearance in text: USH2A: S3071S; rs111033397
PubMed Link: 27270441
Variant Present in the following documents:
  • onc2016172x3.xls, sheet 3
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: 9213G>A; Ser3071Ser
PubMed Link: 20507924
Variant Present in the following documents:
  • Main text
View BVdb publication page