NM_001352514.2(HLCS):c.1323C>A (p.Gly441=) AND Holocarboxylase synthetase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003601103.1
Allele description [Variation Report for NM_001352514.2(HLCS):c.1323C>A (p.Gly441=)]
NM_001352514.2(HLCS):c.1323C>A (p.Gly441=)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024