CPT2 · rs2229291
Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.
What the study found
Who was studied 3,926 Hispanic/Latino individuals.
The effect Each copy of the T allele shifted the measure 0.471 higher (95% confidence interval 0.34-0.61); p = 9 × 10−12.
How common The T allele had a frequency of about 97% in the people studied.
Where it sits Chromosome 1, band 1p32.3 — a missense change in CPT2.
What ClinVar records
Classification
Benign/Likely benign for Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, myopathic form, Encephalopathy, acute, infection-induced, susceptibility to, 4 and 9 more; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 15 submitters), last evaluated 2026-02-04.
ClinVar record 92428 NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys)
Classification
Uncertain significance for Carnitine palmitoyltransferase II deficiency; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2022-08-06.
ClinVar record 2163113 NM_000098.3(CPT2):c.1055T>C (p.Phe352Ser)
What this is ClinVar's aggregate record for this position (as of its 2026-09-24 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.
rs2229291 is a single position in the genome, in or near the CPT2 gene. Published research associates it with serum metabolite levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
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.
GWAS Catalog, Am J Hum Genet 2020, PMID:33031748. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
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.
Serum metabolite levels (rs2229291). MyGeneLog™. https://www.mygenelog.com/variants/rs2229291