NM_001370595.2(COA8):c.328G>T (p.Glu110Ter) AND Mitochondrial complex 4 deficiency, nuclear type 17
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003228733.1
Allele description [Variation Report for NM_001370595.2(COA8):c.328G>T (p.Glu110Ter)]
NM_001370595.2(COA8):c.328G>T (p.Glu110Ter)
Condition(s)
Assertion and evidence details
Last Updated: May 27, 2023