NM_002103.5(GYS1):c.*465G>A AND Glycogen storage disease due to muscle and heart glycogen synthase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 23, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001130378.4
Allele description [Variation Report for NM_002103.5(GYS1):c.*465G>A]
NM_002103.5(GYS1):c.*465G>A
Condition(s)
Assertion and evidence details
Last Updated: Jan 13, 2025