USH2A c.15104_15105del ;(p.T5035Rfs*142)

Variant ID: 1-215807992-CTG-C

NM_206933.2(USH2A):c.15104_15105del;(p.T5035Rfs*142)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.

Investigative Ophthalmology & Visual Science
Li, Wei W; He, Xiang-Dong XD; Yang, Zheng-Tao ZT; Han, Dong-Ming DM; Sun, Yan Y; Chen, Yan-Xian YX; Han, Xiao-Tong XT; Guo, Si-Cheng SC; Ma, Yu-Ting YT; Jin, Xin X; Yang, Huan-Ming HM; Gao, Ya Y; Wang, Zhuo-Shi ZS; Li, Jian-Kang JK; He, Wei W
Publication Date: 2023-02-01

Variant appearance in text: USH2A: 15104_15105delCA; Thr5035Argfs*142
PubMed Link: 36729443
Variant Present in the following documents:
  • iovs-64-2-5_s003.xlsx, sheet 1
View BVdb publication page



Predicting pathogenicity for novel hearing loss mutations based on genetic and protein structure approaches.

Scientific Reports
Buonfiglio, Paula I PI; Bruque, Carlos D CD; Lotersztein, Vanesa V; Luce, Leonela L; Giliberto, Florencia F; Menazzi, Sebastián S; Francipane, Liliana L; Paoli, Bibiana B; Goldschmidt, Ernesto E; Elgoyhen, Ana Belén AB; Dalamón, Viviana V
Publication Date: 2022-01-07

Variant appearance in text: USH2A: Thr5035Argfs*142
PubMed Link: 34997062
Variant Present in the following documents:
  • 41598_2021_4081_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Predicting pathogenicity for novel hearing loss mutations based on genetic and protein structure approaches.

Scientific Reports
Buonfiglio, Paula I PI; Bruque, Carlos D CD; Lotersztein, Vanesa V; Luce, Leonela L; Giliberto, Florencia F; Menazzi, Sebastián S; Francipane, Liliana L; Paoli, Bibiana B; Goldschmidt, Ernesto E; Elgoyhen, Ana Belén AB; Dalamón, Viviana V
Publication Date: 2022-01-07

Variant appearance in text: USH2A: Thr5035Argfs*142
PubMed Link: 34997062
Variant Present in the following documents:
  • 41598_2021_4081_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: USH2A: 15104_15105delCA; Thr5035fs
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07

Variant appearance in text: USH2A: 15104_15105delCA; Thr5035ArgfsX142
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page