PMID: 20393306

Impact of gene patents and licensing practices on access to genetic testing for hereditary hemochromatosis.

Genetics in medicine : official journal of the American College of Medical Genetics

S Chandrasekharan, E Pitlick, C Heaney, R Cook-Deegan

2010-04

11 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
6-26091582-A-C	HFE	c.381A>C	p.Gln127His	Missense	3/6	-
6-26091582-A-T	HFE	c.381A>T	p.Gln127His	Missense	3/6	-
6-26091181-T-C	HFE	c.189T>C	p.His63His	Synonymous	2/6	-
6-26091185-A-T	HFE	c.193A>T	p.Ser65Cys	Missense	2/6	-
6-26093144-A-C	HFE	c.848A>C	p.Gln283Pro	Missense	4/6	-
6-26091703-G-C	HFE	c.502G>C	p.Glu168Gln	Missense	3/6	-
6-26091269-G-C	HFE	c.277G>C	p.Gly93Arg	Missense	2/6	-
6-26091703-G-T	HFE	c.502G>T	p.Glu168*	Nonsense	3/6	-
6-26091269-G-A	HFE	c.277G>A	p.Gly93Arg	Missense	2/6	-
6-26091167-G-A	HFE	c.175G>A	p.Val59Met	Missense	2/6	-
6-26091149-G-A	HFE	c.157G>A	p.Val53Met	Missense	2/6	-