rs75527207
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)
- Cystic fibrosis (CF)Pathogenic · ★★★★ · germline
- ivacaftor response - EfficacyDrug response · ★★★ · germline
- Bronchiectasis with or without elevated sweat chloride 1 (BESC1)Pathogenic · ★ · unknown
- Bronchiectasis with or without elevated sweat chloride 1 (BESC1)Pathogenic · ★ · germline
- Hereditary pancreatitis (PCTT)Pathogenic · ★ · germline
- Congenital bilateral aplasia of vas deferens from CFTR mutation (CBAVD)Pathogenic · ★ · germline
- CFTR-related disorder (CFTR-RD)Pathogenic · germline
- Hereditary pancreatitis (PCTT)not provided · germline
- not providedPathogenic · ★★ · unknown
gnomAD allele frequency 2.23e-4
rs75527207 is a genetic variant located in the CFTR gene. dbsnp · gene
In gnomAD, rs75527207 has an overall allele frequency of 0.02%. gnomad · frequency
In ClinVar, rs75527207 is classified as Pathogenic for Cystic fibrosis (CF) (4 review stars, germline; last evaluated 2004-03-03). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs75527207 is classified as Drug response (efficacy) for ivacaftor response (3 review stars, germline; last evaluated 2021-03-24). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs75527207 is classified as Pathogenic for Bronchiectasis with or without elevated sweat chloride 1 (BESC1) (1 review star; last evaluated 2024-03-25). clinvar · classificationclinvar · review confidenceclinvar · assertion date
In ClinVar, rs75527207 is classified as Pathogenic for Bronchiectasis with or without elevated sweat chloride 1 (BESC1) (1 review star, germline; last evaluated 2024-02-08). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs75527207 is classified as Pathogenic for Hereditary pancreatitis (PCTT) (1 review star, germline; last evaluated 2024-02-08). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs75527207 is classified as Pathogenic for Congenital bilateral aplasia of vas deferens from CFTR mutation (CBAVD) (1 review star, germline; last evaluated 2024-02-08). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs75527207 is classified as Pathogenic for CFTR-related disorder (CFTR-RD) (0 review stars, germline; last evaluated 2024-09-23). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs75527207 is classified as not provided for Hereditary pancreatitis (PCTT) (0 review stars, germline). clinvar · classificationclinvar · review confidenceclinvar · origin
In ClinVar, rs75527207 is classified as Pathogenic for not provided (2 review stars; last evaluated 2024-06-18). clinvar · classificationclinvar · review confidenceclinvar · assertion date
retrieved 2026-08-03 · facts fea861ae6a6ae4eb · 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.