FH c.310G>A ;(p.A104T)

Variant ID: 1-241676971-C-T

NM_000143.3(FH):c.310G>A;(p.A104T)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: FH: A104T
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
  • Table_3.xlsx, sheet 1
View BVdb publication page



Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.

Aging
Su, Xiaofan X; Jin, Haoxuan H; Wang, Jiaqian J; Lu, Huiping H; Gu, Tiantian T; Gao, Zhibo Z; Li, Manxiang M
Publication Date: 2022-05-25

Variant appearance in text: FH: 310G>A
PubMed Link: 35613927
Variant Present in the following documents:
  • aging-14-204101-s004.xlsx, sheet 1
View BVdb publication page



Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Popp, Bernt B; Erber, Ramona R; Kraus, Cornelia C; Vasileiou, Georgia G; Hoyer, Juliane J; Burghaus, Stefanie S; Hartmann, Arndt A; Beckmann, Matthias W MW; Reis, André A; Agaimy, Abbas A
Publication Date: 2020-11

Variant appearance in text: FH: 310G>A; Ala104Thr
PubMed Link: 32612247
Variant Present in the following documents:
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: FH: 310G>A; A104T
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Malignant paraganglioma of the posterior mediastinum: A case report with genetic analysis.

Molecular And Clinical Oncology
Adachi, Yasushi Y; Mita, Hiroaki H; Sasaki, Yasushi Y; Himori, Ryogo R; Onodera, Kei K; Nakamura, Masahiro M; Kikuchi, Takefumi T; Yamashita, Kentaro K; Yoshida, Yukinari Y; Ishii, Yoshifumi Y; Endo, Takao T
Publication Date: 2019-01

Variant appearance in text: FH: 310G>A; Ala104Thr
PubMed Link: 30655972
Variant Present in the following documents:
  • Main text
  • mco-10-01-0010.pdf
View BVdb publication page