TTN c.76722T>C ;(p.Y25574=)

Variant ID: 2-179434137-A-G

NM_001267550.1(TTN):c.76722T>C;(p.Y25574=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort.

Npj Genomic Medicine
Aguib, Yasmine Y; Allouba, Mona M; Afify, Alaa A; Halawa, Sarah S; El-Khatib, Mohamed M; Sous, Marina M; Galal, Aya A; Abdelrahman, Eslam E; Shehata, Nairouz N; El Sawy, Amr A; Elmaghawry, Mohamed M; Anwer, Shehab S; Kamel, Omnia O; El Mozy, Wesam W; Khedr, Hadir H; Kharabish, Ahmed A; Thabet, Nagwa N; Theotokis, Pantazis I PI; Buchan, Rachel R; Govind, Risha R; Whiffin, Nicola N; Walsh, Roddy R; Aguib, Heba H; Elguindy, Ahmed A; O'Regan, Declan P DP; Cook, Stuart A SA; Barton, Paul J PJ; Ware, James S JS; Yacoub, Magdi M
Publication Date: 2020

Variant appearance in text: TTN: 76722T>C
PubMed Link: 33110626
Variant Present in the following documents:
  • 41525_2020_153_MOESM1_ESM.pdf
View BVdb publication page



Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Circulation. Genomic And Precision Medicine
Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B
Publication Date: 2019-02

Variant appearance in text: TTN: 76722T>C; Tyr25574=
PubMed Link: 30681346
Variant Present in the following documents:
  • hcg-12-e002460-s002.xlsx, sheet 8
View BVdb publication page



Systematic genomic and translational efficiency studies of uveal melanoma.

Plos One
Johnson, Chelsea Place CP; Kim, Ivana K IK; Esmaeli, Bita B; Amin-Mansour, Ali A; Treacy, Daniel J DJ; Carter, Scott L SL; Hodis, Eran E; Wagle, Nikhil N; Seepo, Sara S; Yu, Xiaoxing X; Lane, Anne Marie AM; Gragoudas, Evangelos S ES; Vazquez, Francisca F; Nickerson, Elizabeth E; Cibulskis, Kristian K; McKenna, Aaron A; Gabriel, Stacey B SB; Getz, Gad G; Van Allen, Eliezer M EM; 't Hoen, Peter A C PAC; Garraway, Levi A LA; Woodman, Scott E SE
Publication Date: 2017

Variant appearance in text: TTN: 76722T>C; Y25574Y
PubMed Link: 28594900
Variant Present in the following documents:
  • pone.0178189.s004.xls, sheet 1
View BVdb publication page