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