NM_002103.5(GYS1):c.2170G>A (p.Glu724Lys) AND Glycogen storage disease due to muscle and heart glycogen synthase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 24, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001898690.5
Allele description [Variation Report for NM_002103.5(GYS1):c.2170G>A (p.Glu724Lys)]
NM_002103.5(GYS1):c.2170G>A (p.Glu724Lys)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024