NM_183235.3(RAB27A):c.335del (p.Asn112fs) AND Griscelli syndrome type 2
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001939967.3
Allele description [Variation Report for NM_183235.3(RAB27A):c.335del (p.Asn112fs)]
NM_183235.3(RAB27A):c.335del (p.Asn112fs)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024