NM_003664.5(AP3B1):c.1739T>G (p.Leu580Arg) AND Hermansky-Pudlak syndrome 2
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 1, 1999
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000006744.6
Allele description [Variation Report for NM_003664.5(AP3B1):c.1739T>G (p.Leu580Arg)]
NM_003664.5(AP3B1):c.1739T>G (p.Leu580Arg)
Condition(s)
Assertion and evidence details
Last Updated: Apr 23, 2022