TTN c.10030C>T ;(p.P3344S)

Variant ID: 2-179628988-G-A

NM_001267550.1(TTN):c.10030C>T;(p.P3344S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

The Journal Of Pathology
BirkeƤlv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ
Publication Date: 2022-10-11

Variant appearance in text: TTN: 10030C>T; P3344S
PubMed Link: 36219477
Variant Present in the following documents:
  • PATH-259-56-s004.xlsx, sheet 2
View BVdb publication page



Clonal hematopoiesis in patients with dyskeratosis congenita.

American Journal Of Hematology
Perdigones, Nieves N; Perin, Juan C JC; Schiano, Irene I; Nicholas, Peter P; Biegel, Jaclyn A JA; Mason, Philip J PJ; Babushok, Daria V DV; Bessler, Monica M
Publication Date: 2016-12

Variant appearance in text: TTN: 10030C>T
PubMed Link: 27622320
Variant Present in the following documents:
  • Main text
View BVdb publication page