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TG c.2183C>A ;(p.T728K)
Variant ID: 8-133900235-C-A
NM_003235.4(
TG
):c.2183C>A;(p.T728K)
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:
HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.
Communications Biology
Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G
Publication Date: 2023-04-22
Variant appearance in text: TG: 2183C>A
PubMed Link:
37087497
Variant Present in the following documents:
42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page
The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.
European Journal Of Endocrinology
Sun, Feng F; Zhang, Jun-Xiu JX; Yang, Chang-Yi CY; Gao, Guan-Qi GQ; Zhu, Wen-Bin WB; Han, Bing B; Zhang, Le-Le LL; Wan, Yue-Yue YY; Ye, Xiao-Ping XP; Ma, Yu-Ru YR; Zhang, Man-Man MM; Yang, Liu L; Zhang, Qian-Yue QY; Liu, Wei W; Guo, Cui-Cui CC; Chen, Gang G; Zhao, Shuang-Xia SX; Song, Ke-Yi KY; Song, Huai-Dong HD
Publication Date: 2018-06
Variant appearance in text: TG: T728K
PubMed Link:
29650690
Variant Present in the following documents:
Main text
eje-178-623.pdf
eje-178-623-t001.pdf
View BVdb publication page