TTN c.91384C>T ;(p.R30462W)

Variant ID: 2-179415874-G-A

NM_001267550.1(TTN):c.91384C>T;(p.R30462W)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genomic clonal evolution correlated with phenotype and prognosis in gastric cancer.

Clinical And Translational Medicine
Ge, Jie J; Li, Xuan X; Deng, Zhenghao Z; Gao, Xuan X; Liu, Yaoyao Y; Xiong, Xingui X; Zhao, Xianhui X; Peng, Huan H; Yi, Xin X; Xia, Xuefeng X; Chen, Zihua Z; Li, Lifeng L; Zhou, Haiyan H; Liu, Heli H
Publication Date: 2022-04

Variant appearance in text: TTN: 91384C>T; R30462W
PubMed Link: 35384329
Variant Present in the following documents:
  • CTM2-12-e799-s006.xlsx, sheet 2
View BVdb publication page



The Genomic Landscape of Actinic Keratosis.

The Journal Of Investigative Dermatology
Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J
Publication Date: 2021-07

Variant appearance in text: TTN: R30462W; rs373623340
PubMed Link: 33482222
Variant Present in the following documents:
  • mmc1.xlsx, sheet 4
View BVdb publication page



Complications of whole-exome sequencing for causal gene discovery in primary platelet secretion defects.

Haematologica
Gorski, Marcin M MM; Lecchi, Anna A; Femia, Eti A EA; La Marca, Silvia S; Cairo, Andrea A; Pappalardo, Emanuela E; Lotta, Luca A LA; Artoni, Andrea A; Peyvandi, Flora F
Publication Date: 2019-10

Variant appearance in text: TTN: R30462W; rs373623340
PubMed Link: 30819905
Variant Present in the following documents:
  • 1042084.pdf
View BVdb publication page