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TPO c.2305C>T ;(p.R769W)
Variant ID: 2-1500456-C-T
NM_001206744.1(
TPO
):c.2305C>T;(p.R769W)
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:
Genetic variants in African-American and Hispanic patients with breast cancer.
Oncology Letters
Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV
Publication Date: 2023-02
Variant appearance in text: TPO: 2305C>T; R769W
PubMed Link:
36644153
Variant Present in the following documents:
Supplementary_Data5.xlsx, sheet 1
View BVdb publication page
Screening and Functional Analysis of TPO Gene Mutations in a Cohort of Chinese Patients With Congenital Hypothyroidism.
Frontiers In Endocrinology
Wang, Huijjuan H; Wang, Wenxia W; Chen, Xi X; Shi, Hailong H; Shi, Yinmin Y; Ding, Guifeng G
Publication Date: 2021
Variant appearance in text: TPO: 2305C>T; Arg769Trp; rs114406277
PubMed Link:
35002963
Variant Present in the following documents:
Main text
fendo-12-774941.pdf
View BVdb publication page
Novel non-synonymous mutations of PAX8 in a cohort of Chinese with congenital hypothyroidism.
Chinese Medical Journal
Qian, Fang F; Li, Gui-Yu GY; Wu, Xiang-Jun XJ; Jia, Qin Q; Lyu, Guan-Ting GT; Wang, Man-Li ML; Wang, Jun J
Publication Date: 2019-06-05
Variant appearance in text: TPO: 2305C>T; Arg769Trp; rs114406277
PubMed Link:
30888984
Variant Present in the following documents:
Main text
cm9-132-1322.pdf
View BVdb publication page