Variant ID: 6-26093443-G-T

NM_000410.3(HFE):c.989G>T;(p.Arg330Met)

This variant was identified in 3 publications




Publications:


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

Gene
JC Barton, CQ Edwards, RT Acton
Publication Date: 2015-12-15

Variant appearance in text: HFE: R330M
PMID: 26456104
View BVdb publication page



Molecular diagnostic and pathogenesis of hereditary hemochromatosis.

International Journal Of Molecular Sciences
PC Santos, JE Krieger, AC Pereira
Publication Date: 2012

Variant appearance in text: HFE: Arg330Met
PMID: 22408404
View BVdb publication page



Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review.

American Journal Of Epidemiology
OA Panagiotou, E Evangelou, JP Ioannidis
Publication Date: 2010-10-15

Variant appearance in text: HFE: Arg330Met
PMID: 20876667
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000309234.6 c.989G>T p.Arg330Met missense_variant 5/6 -
ENST00000317896.7 c.713G>T p.Arg238Met missense_variant 4/5 -
ENST00000336625.8 c.671G>T p.Arg224Met missense_variant 4/5 -
ENST00000349999.4 c.725G>T p.Arg242Met missense_variant 4/5 -
ENST00000352392.4 c.173G>T p.Arg58Met missense_variant 2/3 -
ENST00000353147.5 c.449G>T p.Arg150Met missense_variant 3/4 -
ENST00000357618.5 c.989G>T p.Arg330Met missense_variant 5/6 -
ENST00000397022.3 c.920G>T p.Arg307Met missense_variant 5/6 -
ENST00000461397.1 c.947G>T p.Arg316Met missense_variant 5/6 -
ENST00000470149.1 c.980G>T p.Arg327Met missense_variant 6/7 -
ENST00000485729.1 c.110G>T p.Arg37Met missense_variant 2/4 -
ENST00000486147.1 n.898G>T - non_coding_transcript_exon_variant 4/5 -
ENST00000488199.1 c.683G>T p.Arg228Met missense_variant 4/5 -
NM_000410.3 c.989G>T p.Arg330Met missense_variant 5/6 -
NM_001300749.2 c.989G>T p.Arg330Met missense_variant 5/6 -
NM_139003.3 c.671G>T p.Arg224Met missense_variant 4/5 -
NM_139004.3 c.713G>T p.Arg238Met missense_variant 4/5 -
NM_139006.3 c.947G>T p.Arg316Met missense_variant 5/6 -
NM_139007.3 c.725G>T p.Arg242Met missense_variant 4/5 -
NM_139008.3 c.683G>T p.Arg228Met missense_variant 4/5 -
NM_139009.3 c.920G>T p.Arg307Met missense_variant 5/6 -
NM_139010.3 c.449G>T p.Arg150Met missense_variant 3/4 -
NM_139011.3 c.173G>T p.Arg58Met missense_variant 2/3 -