FH c.941C>T ;(p.A314V)

Variant ID: 1-241667509-G-A

NM_000143.3(FH):c.941C>T;(p.A314V)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: 941C>T; Ala314Val
PubMed Link: 32612247
Variant Present in the following documents:
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Rare Functional Variants in Complement Genes and Anti-FH Autoantibodies-Associated aHUS.

Frontiers In Immunology
Valoti, Elisabetta E; Alberti, Marta M; Iatropoulos, Paraskevas P; Piras, Rossella R; Mele, Caterina C; Breno, Matteo M; Cremaschi, Alessandra A; Bresin, Elena E; Donadelli, Roberta R; Alizzi, Silvia S; Amoroso, Antonio A; Benigni, Ariela A; Remuzzi, Giuseppe G; Noris, Marina M
Publication Date: 2019

Variant appearance in text: FH: 941C>T
PubMed Link: 31118930
Variant Present in the following documents:
  • Main text
  • fimmu-10-00853.pdf
View BVdb publication page



Integrated exome and transcriptome sequencing reveals ZAK isoform usage in gastric cancer.

Nature Communications
Liu, Jinfeng J; McCleland, Mark M; Stawiski, Eric W EW; Gnad, Florian F; Mayba, Oleg O; Haverty, Peter M PM; Durinck, Steffen S; Chen, Ying-Jiun YJ; Klijn, Christiaan C; Jhunjhunwala, Suchit S; Lawrence, Michael M; Liu, Hanbin H; Wan, Yinan Y; Chopra, Vivek V; Yaylaoglu, Murat B MB; Yuan, Wenlin W; Ha, Connie C; Gilbert, Houston N HN; Reeder, Jens J; Pau, Gregoire G; Stinson, Jeremy J; Stern, Howard M HM; Manning, Gerard G; Wu, Thomas D TD; Neve, Richard M RM; de Sauvage, Frederic J FJ; Modrusan, Zora Z; Seshagiri, Somasekar S; Firestein, Ron R; Zhang, Zemin Z
Publication Date: 2014-05-08

Variant appearance in text: FH: A314V
PubMed Link: 24807215
Variant Present in the following documents:
  • ncomms4830-s5.xls, sheet 1
View BVdb publication page