Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

HJV

hemojuvelin BMP co-receptor

Chromosome
1
Cytoband
1q21.1
Variants (rsID)
3

HJV is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1q21.1). Its official name is “hemojuvelin BMP co-receptor”. The reference table lists 3 variants (rsID) for this gene.

Clinically classified variants

3 reference-table entries with clinical significance.

  • rs28940586Pathogenicsingle nucleotide variantHemochromatosis type 2A
  • rs74315323Pathogenicsingle nucleotide variantHemochromatosis type 2A|Hemochromatosis type 1
  • rs74315325Uncertain significancesingle nucleotide variantHemochromatosis type 2A

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.