2 513245122230Reads by AI crawlersClaude3ChatGPT2Google · Gemini0Perplexity4Meta AI5Microsoft · Copilot1Amazon2Apple2China (ByteDance, Huawei, Baidu…)2ByteDance (Doubao)2Others30Total51Counted by the name each crawler declares; requests found to be impersonating one are left out. Google · Gemini includes Googlebot, the search crawler whose index Google also uses for its AI features. Other search engines and bots are under Others.
ClassificationPathogenic for Cystic fibrosis, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF, Hereditary pancreatitis, Duodenal stenosis, Recurrent pancreatitis and 8 more; practice guideline (4 of 4 stars, 88 submitters), last evaluated 2004-03-03.
ClinVar record 7105NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
What this is ClinVar's aggregate record for this position (as of its 2026-10-19 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.
What each result means
-/-Both copies carry F508del. This is the most common genotype in people with cystic fibrosis, and somebody with this result who does not have a diagnosis should treat it as a reason to seek testing rather than as the answer: cystic fibrosis is diagnosed by a sweat chloride test alongside genetic testing, in a clinic, and a consumer array is not a diagnostic instrument.
ATCTT/-One copy carries F508del. This is the carrier state, and carriers do not have cystic fibrosis and do not develop it. Roughly one person in 25 of European ancestry carries some CF-causing variant. It matters for one reason only: if a partner also carries one, each pregnancy has a one in four chance of a child with the condition — which is a conversation with a genetic counsellor rather than a conclusion to draw from a file.
ATCTT/ATCTTNeither copy carries the deletion at this position. This is the common result and it does not rule out being a CFTR carrier: more than two thousand CFTR variants have been described and a consumer array tests a few dozen of them. A file with nothing in it here is not a negative carrier screen.
F508del is the most common CF-causing variant, accounting for around 70% of CF alleles in people of European ancestry. It is a folding fault: the protein is made but never reaches the cell surface. That is why ivacaftor alone does not help somebody who carries only this variant — there is no channel at the surface for it to act on — and why the combination therapies that followed it pair a corrector with a potentiator.
Papers in Europe PMC whose title or abstract names both this rsID and that subject. A shared paper means somebody wrote about the two together — it is not a claim that this position explains the subject.
Questions about rs113993960
What is rs113993960?
rs113993960 is a single position in the genome, in or near the CFTR gene. Published research associates it with cystic fibrosis (f508del). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs113993960 linked to?
On MyGeneLog this position is linked to Cystic Fibrosis. The research behind each link, and its sources, are set out on that condition page.
Does rs113993960 affect how medicines work?
CFTR carries pharmacogenomic findings for Elexacaftor/tezacaftor/ivacaftor (Trikafta), Ivacaftor, Vanzacaftor/tezacaftor/deutivacaftor (Alyftrek). That is educational information, not a prescription or a dosing guide. Any decision to start, stop or change a medicine belongs with the clinician or pharmacist managing your treatment.
What do people read about alongside rs113993960?
Subjects that appear in the title or abstract of the same papers as this rsID include fertility (1 papers), liver (1 papers), longevity and ageing (1 papers). A shared paper means somebody wrote about the two together; it is not a claim that this position explains the topic.
Does having rs113993960 mean I will get this?
No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.
Where does the information about rs113993960 come from?
CPIC Guideline for Ivacaftor Therapy in the Context of CFTR Genotype (Clin Pharmacol Ther 2014, PMID 24598717). Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
2 513245122230Reads by AI crawlersClaude3ChatGPT2Google · Gemini0Perplexity4Meta AI5Microsoft · Copilot1Amazon2Apple2China (ByteDance, Huawei, Baidu…)2ByteDance (Doubao)2Others30Total51Counted by the name each crawler declares; requests found to be impersonating one are left out. Google · Gemini includes Googlebot, the search crawler whose index Google also uses for its AI features. Other search engines and bots are under Others.
Quoting this page
Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.