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USH2A c.9036T>C ;(p.H3012=)
Variant ID: 1-216019185-A-G
NM_206933.2(
USH2A
):c.9036T>C;(p.H3012=)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report.
Bmc Ophthalmology
Young, Su Ling SL; Stanton, Chloe M CM; Livesey, Benjamin J BJ; Marsh, Joseph A JA; Cackett, Peter D PD
Publication Date: 2022-03-26
Variant appearance in text: rs763708135
PubMed Link:
35346118
Variant Present in the following documents:
12886_2022_2353_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page
Multi-region exome sequencing reveals the intratumoral heterogeneity of surgically resected small cell lung cancer.
Nature Communications
Zhou, Huaqiang H; Hu, Yi Y; Luo, Rongzhen R; Zhao, Yuanyuan Y; Pan, Hui H; Ji, Liyan L; Zhou, Ting T; Zhang, Lanjun L; Long, Hao H; Fu, Jianhua J; Wen, Zhesheng Z; Wang, Siyu S; Wang, Xin X; Lin, Peng P; Yang, Haoxian H; Wang, Junye J; Song, Mengmeng M; Yi, Xin X; Yang, Ling L; Xia, Xuefang X; Guan, Yanfang Y; Fang, Wenfeng W; Yang, Yunpeng Y; Hong, Shaodong S; Huang, Yan Y; Li, Pansong P; Zhang, Yaxiong Y; Zhou, Ningning N
Publication Date: 2021-09-14
Variant appearance in text: USH2A: 9036T>C; rs763708135
PubMed Link:
34521849
Variant Present in the following documents:
41467_2021_25787_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page