Variant (rsID / SNP)
rs141709685
rs141709685 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLE1. Location: chromosome 9, position 131,295,872. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
GLE1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:131295872
- Cytoband
- 9q34.11
- HGVS
- NM_001003722.2(GLE1):c.1393T>A (p.Ser465Thr)
- Allele change
- Silent
Associated conditions / phenotypes
Lethal arthrogryposis-anterior horn cell disease syndrome|Lethal congenital contracture syndrome 1|Lethal congenital contractural syndrome Finnish type
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.