NM_005859.5(PURA):c.159del (p.Leu54fs) AND PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003448512.1
Allele description [Variation Report for NM_005859.5(PURA):c.159del (p.Leu54fs)]
NM_005859.5(PURA):c.159del (p.Leu54fs)
Condition(s)
Assertion and evidence details
Last Updated: Jan 26, 2024