NM_001352514.2(HLCS):c.1161A>G (p.Gly387=) AND Holocarboxylase synthetase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003866904.1
Allele description [Variation Report for NM_001352514.2(HLCS):c.1161A>G (p.Gly387=)]
NM_001352514.2(HLCS):c.1161A>G (p.Gly387=)
Condition(s)
Assertion and evidence details
Last Updated: Mar 5, 2024