NM_022081.6(HPS4):c.1535C>T (p.Ser512Leu) AND Hermansky-Pudlak syndrome 4
- 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:
- RCV000261961.5
Allele description [Variation Report for NM_022081.6(HPS4):c.1535C>T (p.Ser512Leu)]
NM_022081.6(HPS4):c.1535C>T (p.Ser512Leu)
Condition(s)
Assertion and evidence details
Last Updated: Apr 9, 2023