NM_007103.4(NDUFV1):c.336T>G (p.Tyr112Ter) AND Mitochondrial complex 1 deficiency, nuclear type 4
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 16, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001784721.4
Allele description [Variation Report for NM_007103.4(NDUFV1):c.336T>G (p.Tyr112Ter)]
NM_007103.4(NDUFV1):c.336T>G (p.Tyr112Ter)
Condition(s)
Assertion and evidence details
Last Updated: Mar 16, 2024