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HFE c.137T>G ;(p.L46W)
Variant ID: 6-26091129-T-G
NM_000410.3(
HFE
):c.137T>G;(p.L46W)
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: L46W
PubMed Link:
26456104
Variant Present in the following documents:
Main text
View BVdb publication page
Molecular diagnostic and pathogenesis of hereditary hemochromatosis.
International Journal Of Molecular Sciences
Santos, Paulo C J L PC; Krieger, Jose E JE; Pereira, Alexandre C AC
Publication Date: 2012
Variant appearance in text: HFE: Leu46Trp
PubMed Link:
22408404
Variant Present in the following documents:
Main text
ijms-13-01497.pdf
View BVdb publication page
Molecular diagnostic and pathogenesis of hereditary hemochromatosis.
International Journal Of Molecular Sciences
Santos, Paulo C J L PCJL; Krieger, Jose E JE; Pereira, Alexandre C AC
Publication Date: 2012
Variant appearance in text: HFE: Leu46Trp
PubMed Link:
22408404
Variant Present in the following documents:
Main text
ijms-13-01497.pdf
View BVdb publication page