TG c.4057C>T ;(p.Q1353*)

Variant ID: 8-133923676-C-T

NM_003235.4(TG):c.4057C>T;(p.Q1353*)

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:

Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG gene.

Annals Of Pediatric Endocrinology & Metabolism
Heo, Seung S; Jang, Ja-Hyun JH; Yu, Jeesuk J
Publication Date: 2019-09

Variant appearance in text: TG: 4057C>T; Q1353*
PubMed Link: 31607114
Variant Present in the following documents:
  • Main text
  • apem-2019-24-3-199.pdf
View BVdb publication page