Gene entry
GLE1
GLE1 RNA export mediator
- Chromosome
- 9
- Cytoband
- 9q34.11
- Variants (rsID)
- 9
GLE1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 9 (region 9q34.11). Its official name is “GLE1 RNA export mediator”. The reference table lists 9 variants (rsID) for this gene.
Clinically classified variants
5 reference-table entries with clinical significance.
- rs10760563Benignsingle nucleotide variantLethal congenital contracture syndrome 1|Lethal arthrogryposis-anterior horn cell disease syndrome
- rs141709685Conflicting interpretationssingle nucleotide variantLethal arthrogryposis-anterior horn cell disease syndrome|Lethal congenital contracture syndrome 1|Lethal congenital contractural syndrome Finnish type
- rs146800850Conflicting interpretationssingle nucleotide variantLethal arthrogryposis-anterior horn cell disease syndrome|Lethal congenital contracture syndrome 1
- rs121434407Likely pathogenicsingle nucleotide variantLethal congenital contracture syndrome 1|Inborn genetic diseases|Lethal arthrogryposis-anterior horn cell disease syndrome|Lethal congenital contractural syndrome Finnish type
- rs121434409Pathogenicsingle nucleotide variantLethal arthrogryposis-anterior horn cell disease syndrome
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.