NM_012233.3(RAB3GAP1):c.630_631insC (p.Ile211fs) AND RAB3GAP1-related disorder
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004527590.1
Allele description [Variation Report for NM_012233.3(RAB3GAP1):c.630_631insC (p.Ile211fs)]
NM_012233.3(RAB3GAP1):c.630_631insC (p.Ile211fs)
Condition(s)
- Name:
- RAB3GAP1-related disorder
- Synonyms:
- RAB3GAP1-Related Disorders; RAB3GAP1-related condition
- Identifiers:
Assertion and evidence details
Last Updated: Aug 18, 2024