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TG c.2776G>T ;(p.E926*)
Variant ID: 8-133905949-G-T
NM_003235.4(
TG
):c.2776G>T;(p.E926*)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism.
Plos One
Makretskaya, Nina N; Bezlepkina, Olga O; Kolodkina, Anna A; Kiyaev, Alexey A; Vasilyev, Evgeny V EV; Petrov, Vasily V; Kalinenkova, Svetlana S; Malievsky, Oleg O; Dedov, Ivan I II; Tiulpakov, Anatoly A
Publication Date: 2018
Variant appearance in text: TG: E926X
PubMed Link:
30240412
Variant Present in the following documents:
Main text
pone.0204323.pdf
View BVdb publication page