NM_016203.4(PRKAG2):c.147C>A (p.Asp49Glu) AND Lethal congenital glycogen storage disease of heart
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 9, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001294807.6
Allele description [Variation Report for NM_016203.4(PRKAG2):c.147C>A (p.Asp49Glu)]
NM_016203.4(PRKAG2):c.147C>A (p.Asp49Glu)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024