NM_001370595.2(COA8):c.129A>C (p.Ser43=) AND Mitochondrial complex 4 deficiency, nuclear type 17
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 26, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002487035.1
Allele description [Variation Report for NM_001370595.2(COA8):c.129A>C (p.Ser43=)]
NM_001370595.2(COA8):c.129A>C (p.Ser43=)
Condition(s)
Assertion and evidence details
Last Updated: Oct 13, 2024