NM_005859.5(PURA):c.436G>A (p.Glu146Lys) AND PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001909321.5
Allele description
NM_005859.5(PURA):c.436G>A (p.Glu146Lys)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024