NM_001352514.2(HLCS):c.1074G>A (p.Thr358=) AND Holocarboxylase synthetase deficiency
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000551133.18
Allele description [Variation Report for NM_001352514.2(HLCS):c.1074G>A (p.Thr358=)]
NM_001352514.2(HLCS):c.1074G>A (p.Thr358=)
Condition(s)
Assertion and evidence details
Last Updated: Apr 15, 2024