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