NM_005609.4(PYGM):c.1371G>T (p.Ala457=) AND Glycogen storage disease, type V
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 16, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003878062.1
Allele description
NM_005609.4(PYGM):c.1371G>T (p.Ala457=)
Condition(s)
- Name:
- Glycogen storage disease, type V (GSD5)
- Synonyms:
- Glycogen storage disease type 5; GSD 5; McArdle disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009293; MedGen: C0017924; Orphanet: 368; OMIM: 232600
Assertion and evidence details
Last Updated: Sep 1, 2024