HFE c.814G>T ;(p.V272L)

Variant ID: 6-26093110-G-T

NM_000410.3(HFE):c.814G>T;(p.V272L)

This variant was identified in 2 publications

View GRCh38 version.




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: V272L
PubMed Link: 26456104
Variant Present in the following documents:
  • Main text
View BVdb publication page



Heteroduplex analysis for the three common HFE variants: methodology, reliability and analysis of over 5000 requests for testing.

Journal Of Clinical Pathology
Kingston, Jeanne J; Bowen, Derrick D; Sweeney, Marion M; Lawless, Susan S; Jackson, Helen H; Worwood, Mark M
Publication Date: 2007-11

Variant appearance in text: HFE: V272L
PubMed Link: 17079357
Variant Present in the following documents:
  • Main text
View BVdb publication page