NM_024996.7(GFM1):c.539del (p.Gly180fs) AND Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Jul 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003232990.3
Allele description [Variation Report for NM_024996.7(GFM1):c.539del (p.Gly180fs)]
NM_024996.7(GFM1):c.539del (p.Gly180fs)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024