Genetic variant
rs2544090147 a variant in the PAFAH1B1 gene
rs2544090147 is a single-letter difference in the PAFAH1B1 gene, on chromosome 17. ClinVar, the public archive of variant interpretations, lists it as pathogenic: able to cause or contribute to disease. 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 rs2544090147 is the catalogue number of one of them, in the PAFAH1B1 gene. Which letters you carry there — one copy from each parent — is your genotype.
PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1): This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (ident…
Gene description from NCBI Gene
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.
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 rs2544090147, 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
- rs2544090147
- Gene
- PAFAH1B1
- Position
- chr17:2667076
- ClinVar classification
- Pathogenic
Sources
- dbSNP: rs2544090147 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- NCBI Gene: PAFAH1B1
- Ensembl: PAFAH1B1