rs113993960
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
- Cystic fibrosis (CF)Pathogenic · ★★★★ · germline
- ivacaftor / lumacaftor response - EfficacyDrug response · ★★★ · germline
- ivacaftor / tezacaftor response - EfficacyDrug response · ★★★ · germline
- Hereditary pancreatitis (PCTT)Pathogenic · ★★ · germline
- Congenital bilateral aplasia of vas deferens from CFTR mutation (CBAVD)Pathogenic · ★★ · germline
- Bronchiectasis with or without elevated sweat chloride 1 (BESC1)Pathogenic · ★★ · germline
- Bronchiectasis with or without elevated sweat chloride 1 (BESC1)Pathogenic · ★★ · unknown
- CFTR-related disorder (CFTR-RD)Pathogenic · ★ · germline
- Obstructive azoospermiaPathogenic · ★ · germline
- Recurrent pancreatitisPathogenic · ★ · unknown
- Duodenal stenosisLikely pathogenic · ★ · unknown
- Bronchiectasis with or without elevated sweat chloride 1, modifier ofRisk factor · germline
gnomAD allele frequency 8.00e-3
rs113993960 is a genetic variant located in the CFTR gene. dbsnp · gene
In gnomAD, rs113993960 has an overall allele frequency of 0.80%. gnomad · frequency
In ClinVar, rs113993960 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, rs113993960 is classified as Drug response (efficacy) for ivacaftor / lumacaftor response (3 review stars, germline; last evaluated 2021-03-24). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs113993960 is classified as Drug response (efficacy) for ivacaftor / tezacaftor response (3 review stars, germline; last evaluated 2021-03-24). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs113993960 is classified as Pathogenic for Hereditary pancreatitis (PCTT) (2 review stars, germline; last evaluated 2024-06-10). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs113993960 is classified as Pathogenic for Congenital bilateral aplasia of vas deferens from CFTR mutation (CBAVD) (2 review stars, germline; last evaluated 2024-06-10). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs113993960 is classified as Pathogenic for Bronchiectasis with or without elevated sweat chloride 1 (BESC1) (2 review stars, germline; last evaluated 2024-06-10). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs113993960 is classified as Pathogenic for Bronchiectasis with or without elevated sweat chloride 1 (BESC1) (2 review stars; last evaluated 2024-03-30). clinvar · classificationclinvar · review confidenceclinvar · assertion date
In ClinVar, rs113993960 is classified as Pathogenic for CFTR-related disorder (CFTR-RD) (1 review star, germline; last evaluated 2023-12-15). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs113993960 is classified as Pathogenic for Obstructive azoospermia (1 review star, germline; last evaluated 2021-08-23). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs113993960 is classified as Pathogenic for Recurrent pancreatitis (1 review star; last evaluated 2017-01-01). clinvar · classificationclinvar · review confidenceclinvar · assertion date
In ClinVar, rs113993960 is classified as Likely pathogenic for Duodenal stenosis (1 review star; last evaluated 2017-01-01). clinvar · classificationclinvar · review confidenceclinvar · assertion date
In ClinVar, rs113993960 is classified as Risk factor for Bronchiectasis with or without elevated sweat chloride 1, modifier of (0 review stars, germline; last evaluated 2015-05-17). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs113993960 is classified as Pathogenic for not provided (2 review stars; last evaluated 2025-03-04). clinvar · classificationclinvar · review confidenceclinvar · assertion date
In ClinVar, rs113993960 is classified as Pathogenic for See cases (1 review star, germline; last evaluated 2019-05-03). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
retrieved 2026-08-03 · facts 33f43b1baeb88e71 · 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.