NM_001972.4(ELANE):c.228C>G (p.Asn76Lys) AND Autoinflammatory syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002264614.3
Allele description [Variation Report for NM_001972.4(ELANE):c.228C>G (p.Asn76Lys)]
NM_001972.4(ELANE):c.228C>G (p.Asn76Lys)
Condition(s)
- Name:
- Autoinflammatory syndrome
- Identifiers:
- MONDO: MONDO:0019751; MedGen: C3890737
Assertion and evidence details
Last Updated: May 12, 2024