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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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