NM_000294.3(PHKG2):c.244C>T (p.Arg82Cys) AND Glycogen storage disease IXc
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 30, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000820028.5
Allele description [Variation Report for NM_000294.3(PHKG2):c.244C>T (p.Arg82Cys)]
NM_000294.3(PHKG2):c.244C>T (p.Arg82Cys)
Condition(s)
Assertion and evidence details
Last Updated: Feb 7, 2023