NM_003664.5(AP3B1):c.1282A>G (p.Ile428Val) AND Hermansky-Pudlak syndrome 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 31, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001205148.7
Allele description [Variation Report for NM_003664.5(AP3B1):c.1282A>G (p.Ile428Val)]
NM_003664.5(AP3B1):c.1282A>G (p.Ile428Val)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024