NM_145199.3(LIPT1):c.369del (p.Lys123fs) AND Lipoyl transferase 1 deficiency
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Mar 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001782966.5
Allele description [Variation Report for NM_145199.3(LIPT1):c.369del (p.Lys123fs)]
NM_145199.3(LIPT1):c.369del (p.Lys123fs)
Condition(s)
Assertion and evidence details
Last Updated: Mar 30, 2024