Variant (rsID / SNP)

rs28940586

rs28940586 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HJV. Location: chromosome 1, position 145,415,419. Clinical significance in the table: Pathogenic.

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Reference-table entries

HJVPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:145415419
Cytoband: 1q21.1
HGVS: NM_213653.4(HJV):c.238T>C (p.Cys80Arg)
Allele change: Silent

Associated conditions / phenotypes

Hemochromatosis type 2A

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.