TTN c.2765G>A ;(p.R922H)

Variant ID: 2-179648807-C-T

NM_001267550.1(TTN):c.2765G>A;(p.R922H)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters
Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV
Publication Date: 2023-02

Variant appearance in text: TTN: 2765G>A; R922H
PubMed Link: 36644153
Variant Present in the following documents:
  • Supplementary_Data5.xlsx, sheet 1
View BVdb publication page



Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications
Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S
Publication Date: 2022-11

Variant appearance in text: TTN: R922H; rs56046320
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



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: 2765G>A; Arg922His
PubMed Link: 33110626
Variant Present in the following documents:
  • 41525_2020_153_MOESM1_ESM.pdf
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: TTN: 2765G>A; Arg922His
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: TTN: 2765G>A; Arg922His
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.

Plos One
Sanchez, Olallo O; Campuzano, Oscar O; Fernández-Falgueras, Anna A; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Mademont, Irene I; Mates, Jesus J; Pérez-Serra, Alexandra A; Coll, Monica M; Pico, Ferran F; Iglesias, Anna A; Tirón, Coloma C; Allegue, Catarina C; Carro, Esther E; Gallego, María Ángeles MÁ; Ferrer-Costa, Carles C; Hospital, Anna A; Bardalet, Narcís N; Borondo, Juan Carlos JC; Vingut, Albert A; Arbelo, Elena E; Brugada, Josep J; Castellà, Josep J; Medallo, Jordi J; Brugada, Ramon R
Publication Date: 2016

Variant appearance in text: TTN: 2765G>A; R922H; rs56046320
PubMed Link: 27930701
Variant Present in the following documents:
  • Main text
  • pone.0167358.pdf
View BVdb publication page



Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.

The Journal Of Experimental Medicine
Wang, Yi Y; Ma, Cindy S CS; Ling, Yun Y; Bousfiha, Aziz A; Camcioglu, Yildiz Y; Jacquot, Serge S; Payne, Kathryn K; Crestani, Elena E; Roncagalli, Romain R; Belkadi, Aziz A; Kerner, Gaspard G; Lorenzo, Lazaro L; Deswarte, Caroline C; Chrabieh, Maya M; Patin, Etienne E; Vincent, Quentin B QB; Müller-Fleckenstein, Ingrid I; Fleckenstein, Bernhard B; Ailal, Fatima F; Quintana-Murci, Lluis L; Fraitag, Sylvie S; Alyanakian, Marie-Alexandra MA; Leruez-Ville, Marianne M; Picard, Capucine C; Puel, Anne A; Bustamante, Jacinta J; Boisson-Dupuis, Stéphanie S; Malissen, Marie M; Malissen, Bernard B; Abel, Laurent L; Hovnanian, Alain A; Notarangelo, Luigi D LD; Jouanguy, Emmanuelle E; Tangye, Stuart G SG; Béziat, Vivien V; Casanova, Jean-Laurent JL
Publication Date: 2016-10-17

Variant appearance in text: rs56046320
PubMed Link: 27647349
Variant Present in the following documents:
  • JEM_20160576_TableS6.xlsx, sheet 1
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: CMH9: R922H; rs56046320
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page