NM_002496.4(NDUFS8):c.133G>A (p.Glu45Lys) AND Mitochondrial complex I deficiency, nuclear type 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000317408.5
Allele description [Variation Report for NM_002496.4(NDUFS8):c.133G>A (p.Glu45Lys)]
NM_002496.4(NDUFS8):c.133G>A (p.Glu45Lys)
Condition(s)
Assertion and evidence details
Last Updated: Sep 1, 2024