Gene entry
ESPN
espin
- Chromosome
- 1
- Cytoband
- 1p36.31
- Variants (rsID)
- 9
ESPN is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p36.31). Its official name is “espin”. The reference table lists 9 variants (rsID) for this gene.
Clinically classified variants
6 reference-table entries with clinical significance.
- rs116413227Benignsingle nucleotide variant
- rs142638391Benignsingle nucleotide variant
- rs115143295Likely benignsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 36
- rs121908134Pathogenicsingle nucleotide variantDeafness, without vestibular involvement, autosomal dominant
- rs121908135Uncertain significancesingle nucleotide variantDeafness, without vestibular involvement, autosomal dominant
- rs189442618Uncertain significancesingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 36
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.