NM_024996.7(GFM1):c.987C>A (p.Leu329=) AND Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- 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:
- RCV000376033.5
Allele description [Variation Report for NM_024996.7(GFM1):c.987C>A (p.Leu329=)]
NM_024996.7(GFM1):c.987C>A (p.Leu329=)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024