FH c.1039T>G ;(p.S347A)

Variant ID: 1-241667411-A-C

NM_000143.3(FH):c.1039T>G;(p.S347A)

This variant was identified in 2 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: 1039T>G; Ser347Ala
PubMed Link: 32612247
Variant Present in the following documents:
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.

Frontiers In Neuroscience
Fernández-Marmiesse, Ana A; Roca, Iria I; Díaz-Flores, Felícitas F; Cantarín, Verónica V; Pérez-Poyato, Mª Socorro MS; Fontalba, Ana A; Laranjeira, Francisco F; Quintans, Sofia S; Moldovan, Oana O; Felgueroso, Blanca B; Rodríguez-Pedreira, Montserrat M; Simón, Rogelio R; Camacho, Ana A; Quijada, Pilar P; Ibanez-Mico, Salvador S; Domingno, Mª Rosario MR; Benito, Carmen C; Calvo, Rocío R; Pérez-Cejas, Antonia A; Carrasco, Mª Llanos ML; Ramos, Feliciano F; Couce, Mª Luz ML; Ruiz-Falcó, Mª Luz ML; Gutierrez-Solana, Luis L; Martínez-Atienza, Margarita M
Publication Date: 2019

Variant appearance in text: FH: 1039T>G
PubMed Link: 31780880
Variant Present in the following documents:
  • fnins-13-01135.pdf
View BVdb publication page