NM_005859.5(PURA):c.576G>T (p.Ala192=) AND PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 17, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001465478.6
Allele description [Variation Report for NM_005859.5(PURA):c.576G>T (p.Ala192=)]
NM_005859.5(PURA):c.576G>T (p.Ala192=)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024