NM_005859.5(PURA):c.763A>G (p.Asn255Asp) AND PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003042746.2
Allele description [Variation Report for NM_005859.5(PURA):c.763A>G (p.Asn255Asp)]
NM_005859.5(PURA):c.763A>G (p.Asn255Asp)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024