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.




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