NM_005609.4(PYGM):c.1240C>G (p.Arg414Gly) AND Glycogen storage disease, type V
- Germline classification:
- Benign (4 submissions)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000128547.25
Allele description [Variation Report for NM_005609.4(PYGM):c.1240C>G (p.Arg414Gly)]
NM_005609.4(PYGM):c.1240C>G (p.Arg414Gly)
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: Apr 15, 2024