SLC40A1 c.1469G>T ;(p.G490V)

Variant ID: 2-190426851-C-A

NM_014585.5(SLC40A1):c.1469G>T;(p.G490V)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: SLC40A1: Gly490Val
PubMed Link: 23049448
Variant Present in the following documents:
  • Main text
  • rbhh-34-311.pdf
View BVdb publication page



Molecular diagnostic and pathogenesis of hereditary hemochromatosis.

International Journal Of Molecular Sciences
Santos, Paulo C J L PC; Krieger, Jose E JE; Pereira, Alexandre C AC
Publication Date: 2012

Variant appearance in text: SLC40A1: Gly490Val
PubMed Link: 22408404
Variant Present in the following documents:
  • Main text
  • ijms-13-01497.pdf
View BVdb publication page



Molecular diagnostic and pathogenesis of hereditary hemochromatosis.

International Journal Of Molecular Sciences
Santos, Paulo C J L PCJL; Krieger, Jose E JE; Pereira, Alexandre C AC
Publication Date: 2012

Variant appearance in text: SLC40A1: Gly490Val
PubMed Link: 22408404
Variant Present in the following documents:
  • Main text
  • ijms-13-01497.pdf
View BVdb publication page



Ferroportin and erythroid cells: an update.

Advances In Hematology
Cianetti, Luciano L; Gabbianelli, Marco M; Sposi, Nadia Maria NM
Publication Date: 2010

Variant appearance in text: FPN1: G490V
PubMed Link: 20827391
Variant Present in the following documents:
  • AH2010-404173.pdf
View BVdb publication page