NM_002495.4(NDUFS4):c.506G>C (p.Arg169Thr) AND Mitochondrial complex I deficiency, nuclear type 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 6, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001328959.1
Allele description [Variation Report for NM_002495.4(NDUFS4):c.506G>C (p.Arg169Thr)]
NM_002495.4(NDUFS4):c.506G>C (p.Arg169Thr)
Condition(s)
Assertion and evidence details
Last Updated: Jul 29, 2023