TTN c.77848C>T ;(p.L25950F)

Variant ID: 2-179433011-G-A

NM_001267550.1(TTN):c.77848C>T;(p.L25950F)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics
Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A
Publication Date: 2023

Variant appearance in text: TTN: 77848C>T; Leu25950Phe
PubMed Link: 36923788
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: TTN: L25950F; rs376814602
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Novel genetic susceptibility loci identified by family based whole exome sequencing in Han Chinese schizophrenia patients.

Translational Psychiatry
Li, Mo M; Shen, Lu L; Chen, Luan L; Huai, Cong C; Huang, Hailiang H; Wu, Xi X; Yang, Chao C; Ma, Jingsong J; Zhou, Wei W; Du, Huihui H; Fan, Lingzi L; He, Lin L; Wan, Chunling C; Qin, Shengying S
Publication Date: 2020-01-16

Variant appearance in text: TTN: L25950F; rs376814602
PubMed Link: 32066673
Variant Present in the following documents:
  • 41398_2020_708_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Clinical and genetic characteristics of female dystrophinopathy carriers.

Molecular Medicine Reports
Zhong, Jingzi J; Xie, Yanshu Y; Bhandari, Vidata V; Chen, Gang G; Dang, Yiwu Y; Liao, Haixia H; Zhang, Jiapeng J; Lan, Dan D
Publication Date: 2019-04

Variant appearance in text: TTN: 77848C>T
PubMed Link: 30816495
Variant Present in the following documents:
  • Main text
  • mmr-19-04-3035.pdf
View BVdb publication page