HFE c.507G>A ;(p.W169*)

Variant ID: 6-26091708-G-A

NM_000410.3(HFE):c.507G>A;(p.W169*)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Impact of HFE gene variants on iron overload, overall survival and leukemia-free survival in myelodysplastic syndromes.

American Journal Of Cancer Research
Schneeweiss-Gleixner, Mathias M; Greiner, Georg G; Herndlhofer, Susanne S; Schellnegger, Julia J; Krauth, Maria-Theresa MT; Gleixner, Karoline V KV; Wimazal, Friedrich F; Steinhauser, Corinna C; Kundi, Michael M; Thalhammer, Renate R; Schwarzinger, Ilse I; Hoermann, Gregor G; Esterbauer, Harald H; Födinger, Manuela M; Valent, Peter P; Sperr, Wolfgang R WR
Publication Date: 2021

Variant appearance in text: HFE: W169X
PubMed Link: 33791166
Variant Present in the following documents:
  • Main text
View BVdb publication page



Detection of a rare mutation in the ferroportin gene through targeted next generation sequencing.

Blood Transfusion = Trasfusione Del Sangue
Ferbo, Ludovica L; Manzini, Paola M PM; Badar, Sadaf S; Campostrini, Natascia N; Ferrarini, Alberto A; Delledonne, Massimo M; Francisci, Tiziana T; Tassi, Valter V; Valfrè, Adriano A; Dall'omo, Anna M AM; D'antico, Sergio S; Girelli, Domenico D; Roetto, Antonella A; De Gobbi, Marco M
Publication Date: 2016-11

Variant appearance in text: HFE: W169X
PubMed Link: 27177411
Variant Present in the following documents:
  • Main text
View BVdb publication page



HFE gene: Structure, function, mutations, and associated iron abnormalities.

Gene
Barton, James C JC; Edwards, Corwin Q CQ; Acton, Ronald T RT
Publication Date: 2015-12-15

Variant appearance in text: HFE: W169X
PubMed Link: 26456104
Variant Present in the following documents:
  • Main text
View BVdb publication page



Iranian hereditary hemochromatosis patients: baseline characteristics, laboratory data and gene mutations.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
Zamani, Farhad F; Bagheri, Zohreh Z; Bayat, Maryam M; Fereshtehnejad, Seyed-Mohammad SM; Basi, Ali A; Najmabadi, Hossein H; Ajdarkosh, Hossein H
Publication Date: 2012-10

Variant appearance in text: HFE: W169X
PubMed Link: 23018356
Variant Present in the following documents:
  • Main text
  • medscimonit-18-10-cr622.pdf
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Analysis of HFE and non-HFE gene mutations in Brazilian patients with hemochromatosis.

Clinics (Sao Paulo, Brazil)
Bittencourt, Paulo Lisboa PL; Marin, Maria Lúcia Carnevale ML; Couto, Cláudia Alves CA; Cançado, Eduardo Luiz Rachid EL; Carrilho, Flair José FJ; Goldberg, Anna Carla AC
Publication Date: 2009

Variant appearance in text: HFE: W169X
PubMed Link: 19759876
Variant Present in the following documents:
  • Main text
  • cln64_9p837.pdf
View BVdb publication page



Association of hepcidin promoter c.-582 A>G variant and iron overload in thalassemia major.

Haematologica
Andreani, Marco M; Radio, Francesca Clementina FC; Testi, Manuela M; De Bernardo, Carmelilia C; Troiano, Maria M; Majore, Silvia S; Bertucci, Pierfrancesco P; Polchi, Paola P; Rosati, Renata R; Grammatico, Paola P
Publication Date: 2009-09

Variant appearance in text: HFE: W169X
PubMed Link: 19734422
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hyperferritinemia is a risk factor for steatosis in chronic liver disease.

World Journal Of Gastroenterology
Licata, Anna A; Nebbia, Maria Elena ME; Cabibbo, Giuseppe G; Iacono, Giovanna Lo GL; Barbaria, Francesco F; Brucato, Virna V; Alessi, Nicola N; Porrovecchio, Salvatore S; Di Marco, Vito V; Craxì, Antonio A; Cammà, Calogero C
Publication Date: 2009-05-07

Variant appearance in text: HFE: W169X
PubMed Link: 19418586
Variant Present in the following documents:
  • Main text
View BVdb publication page



Heterozygous beta-globin gene mutations as a risk factor for iron accumulation and liver fibrosis in chronic hepatitis C.

Gut
Sartori, Massimo M; Andorno, Silvano S; Pagliarulo, Michela M; Rigamonti, Cristina C; Bozzola, Cristina C; Pergolini, Patrizia P; Rolla, Roberta R; Suno, Anna A; Boldorini, Renzo R; Bellomo, Giorgio G; Albano, Emanuele E
Publication Date: 2007-05

Variant appearance in text: HFE: W169X
PubMed Link: 17135308
Variant Present in the following documents:
  • Main text
View BVdb publication page