NM_001261826.3(AP3D1):c.1363G>A (p.Ala455Thr) AND Hermansky-Pudlak syndrome 10
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 4, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002493462.1
Allele description [Variation Report for NM_001261826.3(AP3D1):c.1363G>A (p.Ala455Thr)]
NM_001261826.3(AP3D1):c.1363G>A (p.Ala455Thr)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024