NM_016203.4(PRKAG2):c.690G>T (p.Ala230=) AND Lethal congenital glycogen storage disease of heart
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001495340.14
Allele description [Variation Report for NM_016203.4(PRKAG2):c.690G>T (p.Ala230=)]
NM_016203.4(PRKAG2):c.690G>T (p.Ala230=)
Condition(s)
Assertion and evidence details
Last Updated: Jun 9, 2024