CPS1 · rs1047891
Where this position leads
Condition: Homocysteine Levels
What ClinVar records
Classification
Benign for Congenital hyperammonemia, type I, CARBAMOYL PHOSPHATE SYNTHETASE I POLYMORPHISM; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 14 submitters), last evaluated 2026-02-04.
ClinVar record 128852 NM_001875.5(CPS1):c.4217C>A (p.Thr1406Asn)
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 people read about alongside this
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.
2026-08-25 · Mu Y et al., Biology of Sex Differences 2026 (PMID 42702734)
Muscle Loss With Age: A Blood-Test Index Finds Different Genes in Men and Women
Sarcopenia is the loss of muscle with age. A UK Biobank study used a simple blood-test ratio, creatinine to cystatin C, as a stand-in for muscle mass and found 774 genetic regions, with different genes standing out in men and women: the androgen receptor in men, the oestrogen receptor gene ESR1 in women. The strongest signals were in CPS1 and in CST3, the gene that makes cystatin C, one of the two blood markers the index is built from. rs55837531 in CST3 and rs1047891 in CPS1 have pages here.
rs1047891 is a single position in the genome, in or near the CPS1 gene. Published research associates it with plasma homocysteine levels (post-methionine load test). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
On MyGeneLog this position is linked to Homocysteine Levels. The research behind each link, and its sources, are set out on that condition page.
Subjects that appear in the title or abstract of the same papers as this rsID include kidneys (2 papers), blood sugar and insulin (1 papers), caffeine and energy drinks (1 papers), cholesterol and blood fats (1 papers), liver (1 papers). A shared paper means somebody wrote about the two together; it is not a claim that this position explains the topic.
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, PLoS Genet 2014, PMID:24651765. 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.
Plasma homocysteine levels (post-methionine load test) (rs1047891). MyGeneLog™. https://www.mygenelog.com/variants/rs1047891