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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.
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: 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