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USH2A c.12407C>T ;(p.T4136I)
Variant ID: 1-215848846-G-A
NM_206933.2(
USH2A
):c.12407C>T;(p.T4136I)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Integrative proteomic characterization of adenocarcinoma of esophagogastric junction.
Nature Communications
Li, Shengli S; Yuan, Li L; Xu, Zhi-Yuan ZY; Xu, Jing-Li JL; Chen, Gui-Ping GP; Guan, Xiaoqing X; Pan, Guang-Zhao GZ; Hu, Can C; Dong, Jinyun J; Du, Yi-An YA; Yang, Li-Tao LT; Ni, Mao-Wei MW; Jiang, Rui-Bin RB; Zhu, Xiu X; Lv, Hang H; Xu, Han-Dong HD; Zhang, Sheng-Jie SJ; Qin, Jiang-Jiang JJ; Cheng, Xiang-Dong XD
Publication Date: 2023-02-11
Variant appearance in text: USH2A: 12407C>T; T4136I
PubMed Link:
36774361
Variant Present in the following documents:
41467_2023_36462_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page
The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.
Human Genetics
Usami, Shin-Ichi SI; Nishio, Shin-Ya SY
Publication Date: 2022-04
Variant appearance in text: USH2A: 12407C>T; Thr4136Ile
PubMed Link:
34599366
Variant Present in the following documents:
439_2021_2371_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
Truncating Variants Contribute to Hearing Loss and Severe Retinopathy in USH2A-Associated Retinitis Pigmentosa in Japanese Patients.
International Journal Of Molecular Sciences
Inaba, Akira A; Maeda, Akiko A; Yoshida, Akiko A; Kawai, Kanako K; Hirami, Yasuhiko Y; Kurimoto, Yasuo Y; Kosugi, Shinji S; Takahashi, Masayo M
Publication Date: 2020-10-22
Variant appearance in text: USH2A: 12407C>T; Thr4136Ile
PubMed Link:
33105608
Variant Present in the following documents:
Main text
ijms-21-07817.pdf
View BVdb publication page