HFE c.340G>A ;(p.E114K)

Variant ID: 6-26091332-G-A

NM_000410.3(HFE):c.340G>A;(p.E114K)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

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: E114K
PubMed Link: 26456104
Variant Present in the following documents:
  • Main text
View BVdb publication page


Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants.

Haematologica
Aguilar-Martinez, Patricia P; Grandchamp, Bernard B; Cunat, Séverine S; Cadet, Estelle E; Blanc, François F; Nourrit, Marlène M; Lassoued, Kaiss K; Schved, Jean-François JF; Rochette, Jacques J
Publication Date: 2011-04

Variant appearance in text: HFE: 340G>A; Glu114Lys
PubMed Link: 21228038
Variant Present in the following documents:
  • Main text
View BVdb publication page