NM_024996.7(GFM1):c.361dup (p.Thr121fs) AND Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003468278.1
Allele description [Variation Report for NM_024996.7(GFM1):c.361dup (p.Thr121fs)]
NM_024996.7(GFM1):c.361dup (p.Thr121fs)
Condition(s)
Assertion and evidence details
Last Updated: Dec 30, 2023