NM_003664.5(AP3B1):c.1683C>T (p.Leu561=) AND Autoinflammatory syndrome
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Dec 12, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002260995.3
Allele description [Variation Report for NM_003664.5(AP3B1):c.1683C>T (p.Leu561=)]
NM_003664.5(AP3B1):c.1683C>T (p.Leu561=)
Condition(s)
- Name:
- Autoinflammatory syndrome
- Identifiers:
- MONDO: MONDO:0019751; MedGen: C3890737
Assertion and evidence details
Last Updated: Sep 29, 2024