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FH c.367G>A ;(p.A123T)
Variant ID: 1-241676914-C-T
NM_000143.3(
FH
):c.367G>A;(p.A123T)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Prognostic value of baseline genetic features and newly identified TP53 mutations in advanced breast cancer.
Molecular Oncology
Zhang, Lanxin L; Sun, Siwen S; Zhao, Xiaotian X; Liu, Jingwen J; Xu, Yang Y; Xu, Lingzhi L; Song, Chen C; Li, Na N; Yu, Jing J; Zhao, Shanshan S; Yu, Peiyao P; Fang, Fengqi F; Xie, Jiping J; Ji, Xuening X; Yu, Ruoying R; Ou, Qiuxiang Q; Zhao, Zuowei Z; Li, Man M
Publication Date: 2022-10
Variant appearance in text: FH: 367G>A; A123T
PubMed Link:
35971249
Variant Present in the following documents:
MOL2-16-3689-s005.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: 367G>A; Ala123Thr
PubMed Link:
32612247
Variant Present in the following documents:
41379_2020_596_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page
Automatic extraction of protein point mutations using a graph bigram association.
Plos Computational Biology
Lee, Lawrence C LC; Horn, Florence F; Cohen, Fred E FE
Publication Date: 2007-02-02
Variant appearance in text: FH: A123T
PubMed Link:
17274683
Variant Present in the following documents:
Main text
pcbi.0030016.pdf
View BVdb publication page