NM_001352514.2(HLCS):c.1327G>A (p.Val443Ile) AND Holocarboxylase synthetase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001141809.4
Allele description [Variation Report for NM_001352514.2(HLCS):c.1327G>A (p.Val443Ile)]
NM_001352514.2(HLCS):c.1327G>A (p.Val443Ile)
Condition(s)
Assertion and evidence details
Last Updated: Apr 9, 2023