rs11568350

This is a variant in the SLC40A1 gene that changes a glutamine to an histidine.

▶

ClinVar annotation

Likely Benign★★★☆
3 submitters12 publications

Hemochromatosis type 4 (HFE4)

View on ClinVar →
▶

Research that mentions this SNP (1)

▶
Ferroportin (SLC40A1) Q248H mutation is associated with lower circulating serum hepcidin levels in Rwandese HIV-positive women
AssociationN=200Florence Masaisa et al.(2012)· Annals of Hematology

This cross-sectional study of 200 HIV-positive women in Rwanda examined the ferroportin Q248H mutation (encoded by SLC40A1, rs11568350) and its association with iron metabolism and opportunistic infections. The Q248H mutation (6% prevalence) was associated with significantly higher serum ferritin (P=0.001), lower serum hepcidin (P=0.001), and lower transferrin (P=0.01). Subjects with the mutation showed increased prevalence of pulmonary TB (P=0.01) and Pneumocystis jiroveci pneumonia (P=0.02).

Traits studied:HIV infectionHepcidin levelsIron overloadOpportunistic infectionsPneumocystis jiroveci pneumoniaPulmonary tuberculosis
PubMedDOIMetascience Observatory

About SLC40A1

The protein encoded by this gene is a cell membrane protein that may be involved in iron export from duodenal epithelial cells. Defects in this gene are a cause of hemochromatosis type 4 (HFE4). [provided by RefSeq, Jul 2008]

View all SLC40A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…