← Genclarus

rs1799945

NM_000410.4(HFE):c.187C>G (p.His63Asp)

HFE-AS1missense variantp.His63Aspsingle nucleotide variant
ClinVar by condition
  • Hereditary hemochromatosis (HFE)Pathogenic · ★ · germline
  • Cardiomyopathy (CMYO)Pathogenic · ★ · germline
  • Variegate porphyria (VP)Pathogenic · ★ · germline
  • Alzheimer diseasePathogenic · ★ · unknown
  • Variegate porphyria (VP)Pathogenic · ★ · unknown
  • Microvascular complications of diabetes, susceptibility to, 7Pathogenic · ★ · unknown
  • Hemochromatosis type 1 (HFE1)Pathogenic · ★ · unknown
  • TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2 (TFQTL2)Pathogenic · ★ · unknown
  • Familial porphyria cutanea tarda (PCT)Pathogenic · ★ · unknown
  • Hemochromatosis type 1 (HFE1)Conflicting interpretations · ★ · germline
  • Cystic fibrosis (CF)Risk factor · germline
  • Bronze diabetesnot provided · unknown

gnomAD allele frequency 9.95e-2

In gnomAD, rs1799945 has an overall allele frequency of 9.9%. gnomad · frequency

In ClinVar, rs1799945 is classified as Pathogenic (low penetrance) for Hereditary hemochromatosis (HFE) (1 review star, germline; last evaluated 2025-02-03). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1799945 is classified as Pathogenic for Cardiomyopathy (CMYO) (1 review star, germline; last evaluated 2021-03-25). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1799945 is classified as Pathogenic for Variegate porphyria (VP) (1 review star, germline; last evaluated 2020-01-13). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1799945 is classified as Pathogenic for Alzheimer disease (1 review star; last evaluated 2018-10-31). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs1799945 is classified as Pathogenic for Variegate porphyria (VP) (1 review star; last evaluated 2018-10-31). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs1799945 is classified as Pathogenic for Microvascular complications of diabetes, susceptibility to, 7 (1 review star; last evaluated 2018-10-31). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs1799945 is classified as Pathogenic for Hemochromatosis type 1 (HFE1) (1 review star; last evaluated 2018-10-31). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs1799945 is classified as Pathogenic for TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2 (TFQTL2) (1 review star; last evaluated 2018-10-31). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs1799945 is classified as Pathogenic for Familial porphyria cutanea tarda (PCT) (1 review star; last evaluated 2018-10-31). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs1799945 is classified as Conflicting interpretations for Hemochromatosis type 1 (HFE1) (1 review star, germline; last evaluated 2024-04-02). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1799945 is classified as Risk factor for Cystic fibrosis (CF) (0 review stars, germline; last evaluated 2019-04-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1799945 is classified as not provided for Bronze diabetes (0 review stars). clinvar · classificationclinvar · review confidence

In ClinVar, rs1799945 is classified as Pathogenic for not provided (2 review stars, germline; last evaluated 2025-03-04). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1799945 is classified as Pathogenic for See cases (1 review star; last evaluated 2021-12-10). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs1799945 is classified as no classifications from unflagged record for not specified (0 review stars, germline; last evaluated 2022-11-29). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

Sources

retrieved 2026-08-03 · facts 11bbb223698e7715 · meta/llama-3.1-8b-instruct · prompt 4.0.1 · schema 3.0.0

Educational information only — not medical advice, a diagnosis, or a clinical interpretation. A variant's significance can be uncertain, conflicting, or dependent on your full clinical and family context. Consult a qualified genetics professional or genetic counselor before drawing any conclusion.