NM_015340.4(LARS2):c.1261G>C (p.Asp421His) AND not provided
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 25, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002572952.2
Allele description [Variation Report for NM_015340.4(LARS2):c.1261G>C (p.Asp421His)]
NM_015340.4(LARS2):c.1261G>C (p.Asp421His)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Inherited lipoic acid biosynthesis defect
Inherited lipoic acid biosynthesis defectMedGen
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024