Variant (rsID / SNP)
rs587782996
rs587782996 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PURA. Location: chromosome 5, position 139,494,129. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
PURAPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:139494129
- Cytoband
- 5q31.3
- HGVS
- NM_005859.5(PURA):c.363C>G (p.Tyr121Ter)
- Allele change
- Nonsense_Y121X
Associated conditions / phenotypes
Global developmental delay|Seizure|Neonatal hypotonia|Delayed speech and language development|Intellectual disability|Abnormality of the nervous system
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.