NM_005859.5(PURA):c.306C>T (p.Leu102=) AND PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001449428.7
Allele description [Variation Report for NM_005859.5(PURA):c.306C>T (p.Leu102=)]
NM_005859.5(PURA):c.306C>T (p.Leu102=)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024