HFE c.414C>A ;(p.Y138*)

Variant ID: 6-26091615-C-A

NM_000410.3(HFE):c.414C>A;(p.Y138*)

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: Y138X
PubMed Link: 26456104
Variant Present in the following documents:
  • Main text
View BVdb publication page


Alternative polyadenylation and nonsense-mediated decay coordinately regulate the human HFE mRNA levels.

Plos One
Martins, Rute R; Proença, Daniela D; Silva, Bruno B; Barbosa, Cristina C; Silva, Ana Luísa AL; Faustino, Paula P; Romão, Luísa L
Publication Date: 2012

Variant appearance in text: HFE: Y138X
PubMed Link: 22530027
Variant Present in the following documents:
  • Main text
  • pone.0035461.pdf
View BVdb publication page