NM_001352514.2(HLCS):c.1741C>T (p.Pro581Ser) AND Holocarboxylase synthetase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 20, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002982214.2
Allele description [Variation Report for NM_001352514.2(HLCS):c.1741C>T (p.Pro581Ser)]
NM_001352514.2(HLCS):c.1741C>T (p.Pro581Ser)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024