NM_001139.3(ALOX12B):c.1562A>G (p.Tyr521Cys) AND Lamellar ichthyosis
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002222361.2
Allele description [Variation Report for NM_001139.3(ALOX12B):c.1562A>G (p.Tyr521Cys)]
NM_001139.3(ALOX12B):c.1562A>G (p.Tyr521Cys)
Condition(s)
- Name:
- Lamellar ichthyosis
- Identifiers:
- MONDO: MONDO:0017778; MedGen: C5848247
Assertion and evidence details
Last Updated: Oct 20, 2024