USH2A c.11524A>G ;(p.I3842V)

Variant ID: 1-215916543-T-C

NM_206933.2(USH2A):c.11524A>G;(p.I3842V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22

Variant appearance in text: USH2A: 11524A>G; Ile3842Val
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Identification of 13 novel USH2A mutations in Chinese retinitis pigmentosa and Usher syndrome patients by targeted next-generation sequencing.

Bioscience Reports
Qu, Ling-Hui LH; Jin, Xin X; Long, Yan-Ling YL; Ren, Jia-Yun JY; Weng, Chuang-Huang CH; Xu, Hai-Wei HW; Liu, Yong Y; Meng, Xiao-Hong XH; Li, Shi-Ying SY; Yin, Zheng-Qin ZQ
Publication Date: 2020-01-31

Variant appearance in text: USH2A: 11524A>G; I3842V
PubMed Link: 31904091
Variant Present in the following documents:
  • Main text
  • bsr-40-bsr20193536.pdf
View BVdb publication page