NM_001352514.2(HLCS):c.1974T>A (p.Asn658Lys) AND Holocarboxylase synthetase deficiency
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 8, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003468353.1
Allele description [Variation Report for NM_001352514.2(HLCS):c.1974T>A (p.Asn658Lys)]
NM_001352514.2(HLCS):c.1974T>A (p.Asn658Lys)
Condition(s)
Assertion and evidence details
Last Updated: Dec 30, 2023