NM_002591.4(PCK1):c.556G>A (p.Asp186Asn) AND Phosphoenolpyruvate carboxykinase deficiency, cytosolic
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000288848.5
Allele description [Variation Report for NM_002591.4(PCK1):c.556G>A (p.Asp186Asn)]
NM_002591.4(PCK1):c.556G>A (p.Asp186Asn)
Condition(s)
Assertion and evidence details
Last Updated: Oct 8, 2024