NM_000289.6(PFKM):c.2087G>A (p.Arg696His) AND Glycogen storage disease, type VII
- Germline classification:
- Benign/Likely benign (5 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:
- RCV000631186.25
Allele description [Variation Report for NM_000289.6(PFKM):c.2087G>A (p.Arg696His)]
NM_000289.6(PFKM):c.2087G>A (p.Arg696His)
Condition(s)
- Name:
- Glycogen storage disease, type VII (GSD7)
- Synonyms:
- GSD VII; Glycogen storage disease type 7; Muscle phosphofructokinase deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009295; MedGen: C0017926; Orphanet: 371; OMIM: 232800
Assertion and evidence details
Last Updated: Oct 8, 2024