NM_005006.7(NDUFS1):c.1773_1774dup (p.Lys592fs) AND NDUFS1-related disorder
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003402201.4
Allele description [Variation Report for NM_005006.7(NDUFS1):c.1773_1774dup (p.Lys592fs)]
NM_005006.7(NDUFS1):c.1773_1774dup (p.Lys592fs)
Condition(s)
- Name:
- NDUFS1-related disorder
- Synonyms:
- NDUFS1-related condition
- Identifiers:
Assertion and evidence details
Last Updated: May 19, 2024