rs121908025
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly)
- Hypercholesterolemia, familial, 1Pathogenic · ★★★ · germline
- Familial hypercholesterolemiaPathogenic · ★★ · germline
- DyslipidemiaPathogenic · ★ · germline
- Cardiovascular phenotypePathogenic · ★ · germline
- Homozygous familial hypercholesterolemiaPathogenic · ★ · germline
- not providedPathogenic · ★★ · germline
gnomAD allele frequency 3.19e-5
rs121908025 is a genetic variant located in the LDLR gene. dbsnp · gene
In gnomAD, rs121908025 has a very low overall allele fraction of 0.0000318552. gnomad · frequency
In ClinVar, rs121908025 is classified as Pathogenic for Hypercholesterolemia, familial, 1 (3 review stars, germline; last evaluated 2021-06-07). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs121908025 is classified as Pathogenic for Familial hypercholesterolemia (2 review stars, germline; last evaluated 2025-01-29). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs121908025 is classified as Pathogenic for Dyslipidemia (1 review star, germline; last evaluated 2023-07-20). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs121908025 is classified as Pathogenic for Cardiovascular phenotype (1 review star, germline; last evaluated 2022-04-26). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs121908025 is classified as Pathogenic for Homozygous familial hypercholesterolemia (1 review star, germline; last evaluated 2019-03-29). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs121908025 is classified as Pathogenic for not provided (2 review stars, germline; last evaluated 2025-03-04). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
retrieved 2026-08-03 · facts 47212ac646b358d3 · 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.