NM_000195.5(HPS1):c.9C>A (p.Cys3Ter) AND Hermansky-Pudlak syndrome 1
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Nov 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001782261.6
Allele description [Variation Report for NM_000195.5(HPS1):c.9C>A (p.Cys3Ter)]
NM_000195.5(HPS1):c.9C>A (p.Cys3Ter)
Condition(s)
Assertion and evidence details
Last Updated: Jun 17, 2024