NM_001352514.2(HLCS):c.1610C>G (p.Ser537Ter) AND Holocarboxylase synthetase deficiency
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003983772.1
Allele description [Variation Report for NM_001352514.2(HLCS):c.1610C>G (p.Ser537Ter)]
NM_001352514.2(HLCS):c.1610C>G (p.Ser537Ter)
Condition(s)
Assertion and evidence details
Last Updated: Mar 16, 2024