NM_016589.4(TIMMDC1):c.175C>T (p.Arg59Trp) AND Mitochondrial complex I deficiency, nuclear type 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 17, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001336356.1
Allele description [Variation Report for NM_016589.4(TIMMDC1):c.175C>T (p.Arg59Trp)]
NM_016589.4(TIMMDC1):c.175C>T (p.Arg59Trp)
Condition(s)
Assertion and evidence details
Last Updated: Jul 29, 2023