Variant (rsID / SNP)
rs1799945
rs1799945 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HFE. Location: chromosome 6, position 26,091,179. Clinical significance in the table: Conflicting interpretations of pathogenicity; other.
Reference-table entries
HFEConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity; other
- Variant type
- single nucleotide variant
- Chromosome / position
- 6:26091179
- Cytoband
- 6p22.2
- HGVS
- NM_000410.4(HFE):c.187C>G (p.His63Asp)
- Allele change
- Silent
Associated conditions / phenotypes
Hemochromatosis type 1|Microvascular complications of diabetes, susceptibility to, 7|Hereditary hemochromatosis|6 conditions|Cystic fibrosis|Bronze diabetes|Cardiomyopathy|Abnormality of iron homeostasis|See cases|Variegate porphyria
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.