NM_002863.5(PYGL):c.697G>A (p.Gly233Ser) AND Glycogen storage disease, type VI
- Germline classification:
- Pathogenic/Likely pathogenic (3 submissions)
- Last evaluated:
- Aug 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000989223.8
Allele description [Variation Report for NM_002863.5(PYGL):c.697G>A (p.Gly233Ser)]
NM_002863.5(PYGL):c.697G>A (p.Gly233Ser)
Condition(s)
- Name:
- Glycogen storage disease, type VI (GSD6)
- Synonyms:
- GSD VI; Glycogen storage disease type 6; Hers disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009294; MedGen: C0017925; Orphanet: 369; OMIM: 232700
Assertion and evidence details
Last Updated: Sep 29, 2024