NM_000291.4(PGK1):c.806T>G (p.Leu269Arg) AND Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003333551.1
Allele description [Variation Report for NM_000291.4(PGK1):c.806T>G (p.Leu269Arg)]
NM_000291.4(PGK1):c.806T>G (p.Leu269Arg)
Condition(s)
Assertion and evidence details
Last Updated: Oct 7, 2023