HFE c.1040G>A ;(p.R347H)

Variant ID: 6-26094447-G-A

NM_000410.3(HFE):c.1040G>A;(p.R347H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: rs146508927
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters.

European Journal Of Human Genetics : Ejhg
Publication Date: 2020-12

Variant appearance in text: HFE: 1040G>A; Arg347Gln
PubMed Link: 33262486
Variant Present in the following documents:
  • Main text
  • 41431_2020_Article_741.pdf
View BVdb publication page