TG c.2338C>A ;(p.Q780K)

Variant ID: 8-133900390-C-A

NM_003235.4(TG):c.2338C>A;(p.Q780K)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A diagnostic marker kit for Fusarium wilt and sterility mosaic diseases resistance in pigeonpea.

Tag. Theoretical And Applied Genetics. Theoretische Und Angewandte Genetik
Saxena, Rachit K RK; Hake, Anil A; Bohra, Abhishek A; Khan, Aamir W AW; Hingane, Anupama A; Sultana, Rafat R; Singh, Indra Prakash IP; Naik, S J Satheesh SJS; Varshney, Rajeev K RK
Publication Date: 2021-01

Variant appearance in text: TG: 2338C>A
PubMed Link: 33079215
Variant Present in the following documents:
  • 122_2020_3702_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



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: Q780K
PubMed Link: 30240412
Variant Present in the following documents:
  • Main text
  • pone.0204323.pdf
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: TG: Q780K
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page