HFE c.151G>T ;(p.G51C)

Variant ID: 6-26091143-G-T

NM_000410.3(HFE):c.151G>T;(p.G51C)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


COVID-19: A Personalized Cardiometabolic Approach for Reducing Complications and Costs. The Role of Aging beyond Topics.

The Journal Of Nutrition, Health & Aging
Saban-Ruiz, J J; Ly-Pen, D D
Publication Date: 2020

Variant appearance in text: HFE: G51C
PubMed Link: 32510105
Variant Present in the following documents:
  • Main text
  • 12603_2020_Article_1385.pdf
View BVdb publication page



L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia-Report of New Cases.

Pharmaceuticals (Basel, Switzerland)
Cadenas, Beatriz B; Fita-Torró, Josep J; Bermúdez-Cortés, Mar M; Hernandez-Rodriguez, Inés I; Fuster, José Luis JL; Llinares, María Esther ME; Galera, Ana María AM; Romero, Julia Lee JL; Pérez-Montero, Santiago S; Tornador, Cristian C; Sanchez, Mayka M
Publication Date: 2019-01-23

Variant appearance in text: HFE: G51C
PubMed Link: 30678075
Variant Present in the following documents:
  • pharmaceuticals-12-00017-s001.pdf
View BVdb publication page



Ferritin light chain gene mutations in two Brazilian families with hereditary hyperferritinemia-cataract syndrome.

Einstein (Sao Paulo, Brazil)
Petroni, Roberta Cardoso RC; Rosa, Susana Elaine Alves da SEAD; Carvalho, Flavia Pereira de FP; Santana, Rúbia Anita Ferraz RAF; Hyppolito, Joyce Esteves JE; Nascimento, Claudia Mac Donald Bley CMDB; Hamerschlak, Nelson N; Campregher, Paulo Vidal PV
Publication Date: 2017

Variant appearance in text: HFE: G51C
PubMed Link: 28746593
Variant Present in the following documents:
  • 1679-4508-eins-15-04-0492.pdf
View BVdb publication page



Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome.

Orphanet Journal Of Rare Diseases
Luscieti, Sara S; Tolle, Gabriele G; Aranda, Jessica J; Campos, Carmen Benet CB; Risse, Frank F; Morán, Érica É; Muckenthaler, Martina U MU; Sánchez, Mayka M
Publication Date: 2013-02-19

Variant appearance in text: HFE: G51C
PubMed Link: 23421845
Variant Present in the following documents:
  • 1750-1172-8-30-S1.pdf
View BVdb publication page



Hyperferritinaemia-cataract syndrome: worldwide mutations and phenotype of an increasingly diagnosed genetic disorder.

Human Genomics
Millonig, Gunda G; Muckenthaler, Martina U MU; Mueller, Sebastian S
Publication Date: 2010-04

Variant appearance in text: HFE: G51C
PubMed Link: 20511138
Variant Present in the following documents:
  • 1479-7364-4-4-250.pdf
View BVdb publication page