FH c.835G>T ;(p.V279F)

Variant ID: 1-241669372-C-A

NM_000143.3(FH):c.835G>T;(p.V279F)

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: 835G>T; Val279Phe
PubMed Link: 32612247
Variant Present in the following documents:
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Failure to Launch: Targeting Inflammation in Acute Coronary Syndromes.

Jacc. Basic To Translational Science
Rymer, Jennifer A JA; Newby, L Kristin LK
Publication Date: 2017-08

Variant appearance in text: FH: V279F
PubMed Link: 30062164
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Tubulocystic Carcinoma of the Kidney With Poorly Differentiated Foci: A Frequent Morphologic Pattern of Fumarate Hydratase-deficient Renal Cell Carcinoma.

The American Journal Of Surgical Pathology
Smith, Steven C SC; Trpkov, Kiril K; Chen, Ying-Bei YB; Mehra, Rohit R; Sirohi, Deepika D; Ohe, Chisato C; Cani, Andi K AK; Hovelson, Daniel H DH; Omata, Kei K; McHugh, Jonathan B JB; Jochum, Wolfram W; Colecchia, Maurizio M; Amin, Mitual M; Divatia, Mukul K MK; Hes, Ondřej O; Menon, Santosh S; Werneck da Cunha, Isabela I; Tripodi, Sergio S; Brimo, Fadi F; Gill, Anthony J AJ; Osunkoya, Adeboye O AO; Magi-Galluzzi, Cristina C; Sibony, Mathilde M; Williamson, Sean R SR; Nesi, Gabriella G; Picken, Maria M MM; Maclean, Fiona F; Agaimy, Abbas A; Cheng, Liang L; Epstein, Jonathan I JI; Reuter, Victor E VE; Tickoo, Satish K SK; Tomlins, Scott A SA; Amin, Mahul B MB
Publication Date: 2016-11

Variant appearance in text: FH: V279F
PubMed Link: 27635946
Variant Present in the following documents:
  • Main text
View BVdb publication page