Gene
AGRN
agrin
- HGNC 329(opens in a new tab)
- Ensembl gene ENSG00000188157(opens in a new tab)
- NCBI Gene 375790(opens in a new tab)
Summary
- Cytogenetic location
- 1p36.33
- Coordinates
- Chromosome 1: 1,020,120–1,056,116 (GRCh38)
- Exons
- 36 exons across 36 kb
- Protein
- 2,045 amino acids
- Inheritance
- Autosomal recessive
- Previous symbols
- AGRIN
- MANE Select transcript
- ENST00000379370.7NM_198576.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read AGRN, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome TestCurated report relevant to this gene
Congenital Myasthenic Syndrome
- Congenital Myasthenic Syndrome 8Autosomal recessive
Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the AGRN gene.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
- Congenital Myasthenic Syndrome (All Types)
Umbrella term covering all congenital myasthenic syndromes, including the common CHRNE, RAPSN, DOK7 and MUSK forms.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
What knowing changes
Many forms respond to specific medications such as pyridostigmine, salbutamol or ephedrine, and the right choice depends on the gene involved.
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How AGRN is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 7.3 kb of the gene's 36 kb; 6,138 of those bases code for the protein.
How a genome test reads AGRN
55
positions in AGRN where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 36 kb of AGRN, introns included, not only the 7.3 kb of exons.
Traits linked to AGRN
The Human Phenotype Ontology lists these as features of the rare conditions AGRN can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). AGRN gene: agrin. Retrieved 17 October 2026, from https://dantelabs.com/genes/agrn
Dante Labs. AGRN gene: agrin [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/agrn
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks