FH c.232A>G ;(p.N78D)

Variant ID: 1-241680517-T-C

NM_000143.3(FH):c.232A>G;(p.N78D)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification.

Blood
Martín Merinero, Hector H; Zhang, Yuzhou Y; Arjona, Emilia E; Del Angel, Guillermo G; Goodfellow, Renee R; Gomez-Rubio, Elena E; Ji, Rui-Ru RR; Michelena, Malkoa M; Smith, Richard J H RJH; Rodríguez de Córdoba, Santiago S
Publication Date: 2021-12-02

Variant appearance in text: FH: 232A>G
PubMed Link: 34189567
Variant Present in the following documents:
  • Main text
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: 232A>G; Asn78Asp
PubMed Link: 32612247
Variant Present in the following documents:
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.

Journal Of Immunology (Baltimore, Md. : 1950)
Osborne, Amy J AJ; Breno, Matteo M; Borsa, Nicolo Ghiringhelli NG; Bu, Fengxiao F; Frémeaux-Bacchi, Véronique V; Gale, Daniel P DP; van den Heuvel, Lambertus P LP; Kavanagh, David D; Noris, Marina M; Pinto, Sheila S; Rallapalli, Pavithra M PM; Remuzzi, Giuseppe G; Rodríguez de Cordoba, Santiago S; Ruiz, Angela A; Smith, Richard J H RJH; Vieira-Martins, Paula P; Volokhina, Elena E; Wilson, Valerie V; Goodship, Timothy H J THJ; Perkins, Stephen J SJ
Publication Date: 2018-04-01

Variant appearance in text: FH: 232A>G
PubMed Link: 29500241
Variant Present in the following documents:
  • Main text
View BVdb publication page