FH c.1377C>G ;(p.L459=)

Variant ID: 1-241663750-G-C

NM_000143.3(FH):c.1377C>G;(p.L459=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Predictive mutation signature of immunotherapy benefits in NSCLC based on machine learning algorithms.

Frontiers In Immunology
Liu, Zhichao Z; Lin, Guo G; Yan, Zeping Z; Li, Linduo L; Wu, Xingchen X; Shi, Jingrong J; He, Jianxing J; Zhao, Lei L; Liang, Hengrui H; Wang, Wei W
Publication Date: 2022

Variant appearance in text: FH: 1377C>G; L459L
PubMed Link: 36238300
Variant Present in the following documents:
  • Table_1.xlsx, sheet 4
View BVdb publication page



EPHA5 mutation was associated with adverse outcome of atezolizumab treatment in late-stage non-small cell lung cancers.

Bmc Pulmonary Medicine
Li, Zhenxiang Z; Zhou, Qing Q; Wang, Qi Q; Wang, Haiyong H; Yue, Weiming W
Publication Date: 2022-09-19

Variant appearance in text: FH: 1377C>G; L459L
PubMed Link: 36123678
Variant Present in the following documents:
  • 12890_2022_2161_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A new susceptibility locus for myocardial infarction, hypertension, type 2 diabetes mellitus, and dyslipidemia on chromosome 12q24.

Disease Markers
Wakil, Salma M SM; Muiya, Nzioka P NP; Tahir, Asma I AI; Al-Najai, Mohammed M; Baz, Batoul B; Andres, Editha E; Mazhar, Nejat N; Al Tassan, Nada N; Alshahid, Maie M; Meyer, Brian F BF; Dzimiri, Nduna N
Publication Date: 2014

Variant appearance in text: FH: Leu459Leu
PubMed Link: 25057215
Variant Present in the following documents:
  • Main text
  • DM2014-291419.pdf
View BVdb publication page