Genetic variant
rs148591292 a variant in the PEX7 gene
rs148591292 is a single-letter difference in the PEX7 gene, on chromosome 6. ClinVar, the public archive of variant interpretations, lists it as pathogenic: able to cause or contribute to disease. It has been reported in connection with Rhizomelic chondrodysplasia punctata type 1 and Peroxisome biogenesis disorder 9B, among others. Carrying it does not, on its own, mean you have or will develop any condition.
What is this?
Your DNA is a long sequence of four letters. At a few million positions, people commonly differ by a single letter; each of those positions is called a SNP (“snip”), and rs148591292 is the catalogue number of one of them, in the PEX7 gene. Which letters you carry there — one copy from each parent — is your genotype.
PEX7 (peroxisomal biogenesis factor 7): This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multiple defects in peroxisome function.
Gene description from NCBI Gene
PEX7 IVS9, G-C, 1 Rhizomelic chondrodysplasia punctata type 1 This SNP is called i5006214 and i6055...
From SNPedia
Why might it matter?
ClinVar records this variant as pathogenic, meaning able to cause or contribute to disease. A classification describes the variant, not you: what it means for one person depends on their genotype, their family history and often on other genes and circumstances.
Conditions it has been reported with
- Rhizomelic chondrodysplasia punctata type 1
- Peroxisome biogenesis disorder 9B
- PEX7-related disorder
- Rhizomelic chondrodysplasia punctata
Listed in ClinVar submissions for this variant. Being listed is a report of an association, not a statement that the variant causes the condition in any given person.
Do I have this variant?
If you have taken a consumer DNA test (23andMe, AncestryDNA and similar), you can download its raw data file and check. Create a free account, upload the file, and this page will show the letters you carry at rs148591292, if your test read this position.
Connect this with your blood results
A gene is a fixed instruction; a blood test shows what your body is doing now. CheckMyBloods reads the two side by side, so a variant can be set against the markers it could plausibly affect.
Blood markers do not diagnose a genetic condition, and a variant does not explain a blood result on its own. Together, with symptoms and family history, they give a clinician context.
What should I do next?
- Find out whether you carry it. Reading about a variant says nothing about you until you know your genotype.
- Put it in context. Add your blood results, so the variant can be read against what your body is doing.
- Ask questions. Dr. Hemsworth, our AI assistant, can explain this variant and your results in plain English.
- Take anything that worries you to a professional. A GP or genetic counsellor can order a confirmatory test and interpret it with your history.
This page is general information drawn from public research databases. It cannot diagnose anything, and it is not a substitute for advice from a doctor or genetic counsellor who knows your history.
Technical details
- dbSNP ID
- rs148591292
- Gene
- PEX7
- Position
- chr6:136898242
- ClinVar classification
- Pathogenic
Sources
- dbSNP: rs148591292 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- NCBI Gene: PEX7
- Ensembl: PEX7