NM_005859.5(PURA):c.114_125del (p.Gly39_Gly42del) AND PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 17, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003748082.1
Allele description
NM_005859.5(PURA):c.114_125del (p.Gly39_Gly42del)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024