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FH c.757C>T ;(p.Q253*)
Variant ID: 1-241669450-G-A
NM_000143.3(
FH
):c.757C>T;(p.Q253*)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Case Report: Antiangiogenic Therapy Plus Immune Checkpoint Inhibitors Combined With Intratumoral Cryoablation for Hepatocellular Carcinoma.
Frontiers In Immunology
Li, Xin X; Xu, Jiahua J; Gu, Xiaoqiang X; Chen, Ling L; Wu, Qing Q; Li, Hongwei H; Bai, Haoran H; Yang, Jinzu J; Qian, Jianxin J
Publication Date: 2021
Variant appearance in text: FH: Q253*
PubMed Link:
34733279
Variant Present in the following documents:
Main text
fimmu-12-740790.pdf
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: 757C>T; Gln253*
PubMed Link:
32612247
Variant Present in the following documents:
41379_2020_596_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page