NC_000023.10:g.71800926_(71804153_71812953)del AND Glycogen phosphorylase kinase deficiency
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003493329.1
Allele description [Variation Report for NC_000023.10:g.71800926_(71804153_71812953)del]
NC_000023.10:g.71800926_(71804153_71812953)del
Condition(s)
- Name:
- Glycogen phosphorylase kinase deficiency
- Synonyms:
- Glycogen Storage Disease Type IX
- Identifiers:
- MedGen: C0268147
Assertion and evidence details
Last Updated: Feb 14, 2024