Variant (rsID / SNP)
rs587782991
rs587782991 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PURA. Location: chromosome 5, position 139,494,578. Clinical significance in the table: Pathogenic.
Reference-table entries
PURAPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 5:139494578
- Cytoband
- 5q31.3
- HGVS
- NM_005859.5(PURA):c.812_814del (p.Phe271del)
Associated conditions / phenotypes
Intellectual disability|Global developmental delay|Neonatal hypotonia|Delayed speech and language development|Seizure|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.