HFE c.968G>T ;(p.G323V)

Variant ID: 6-26093422-G-T

NM_000410.3(HFE):c.968G>T;(p.G323V)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Twenty Years of Ferroportin Disease: A Review or An Update of Published Clinical, Biochemical, Molecular, and Functional Features.

Pharmaceuticals (Basel, Switzerland)
Vlasveld, L Tom LT; Janssen, Roel R; Bardou-Jacquet, Edouard E; Venselaar, Hanka H; Hamdi-Roze, Houda H; Drakesmith, Hal H; Swinkels, Dorine W DW
Publication Date: 2019-09-09

Variant appearance in text: HFE: Gly323Val
PubMed Link: 31505869
Variant Present in the following documents:
  • Main text
  • pharmaceuticals-12-00132.pdf
View BVdb publication page



Ferroportin-related haemochromatosis associated with novel Y64H mutation of the SCL40A1 gene.

Przeglad Gastroenterologiczny
Raszeja-Wyszomirska, Joanna J; Caleffi, Angela A; Milkiewicz, Piotr P; Pietrangelo, Antonello A
Publication Date: 2014

Variant appearance in text: HFE: G323V
PubMed Link: 25396007
Variant Present in the following documents:
  • Main text
  • PG-9-23748.pdf
View BVdb publication page



Non-HFE hemochromatosis.

Revista Brasileira De Hematologia E Hemoterapia
Santos, Paulo Caleb Júnior de Lima PC; Dinardo, Carla Luana CL; Cançado, Rodolfo Delfini RD; Schettert, Isolmar Tadeu IT; Krieger, José Eduardo JE; Pereira, Alexandre Costa AC
Publication Date: 2012

Variant appearance in text: HFE: Gly323Val
PubMed Link: 23049448
Variant Present in the following documents:
  • rbhh-34-311.pdf
View BVdb publication page