NM_000294.3(PHKG2):c.1070T>C (p.Leu357Pro) AND Glycogen storage disease IXc
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 28, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000989595.1
Allele description [Variation Report for NM_000294.3(PHKG2):c.1070T>C (p.Leu357Pro)]
NM_000294.3(PHKG2):c.1070T>C (p.Leu357Pro)
Condition(s)
Assertion and evidence details
Last Updated: Apr 23, 2022