NM_005859.5(PURA):c.194G>T (p.Arg65Leu) AND PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003586460.1
Allele description [Variation Report for NM_005859.5(PURA):c.194G>T (p.Arg65Leu)]
NM_005859.5(PURA):c.194G>T (p.Arg65Leu)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024