NM_130839.5(UBE3A):c.1568A>G (p.Lys523Arg) AND Angelman syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 6, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001060776.7
Allele description [Variation Report for NM_130839.5(UBE3A):c.1568A>G (p.Lys523Arg)]
NM_130839.5(UBE3A):c.1568A>G (p.Lys523Arg)
Condition(s)
Assertion and evidence details
Last Updated: Feb 14, 2024