NM_000291.4(PGK1):c.1132A>C (p.Thr378Pro) AND Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 1, 2009
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000010634.5
Allele description [Variation Report for NM_000291.4(PGK1):c.1132A>C (p.Thr378Pro)]
NM_000291.4(PGK1):c.1132A>C (p.Thr378Pro)
Condition(s)
Assertion and evidence details
Last Updated: Apr 23, 2022