NM_024996.7(GFM1):c.1548T>A (p.Cys516Ter) AND Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 18, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004576681.1
Allele description [Variation Report for NM_024996.7(GFM1):c.1548T>A (p.Cys516Ter)]
NM_024996.7(GFM1):c.1548T>A (p.Cys516Ter)
Condition(s)
Assertion and evidence details
Last Updated: Jun 17, 2024