NM_001139.3(ALOX12B):c.1562A>G (p.Tyr521Cys) AND Ichthyosis
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000414880.4
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:
- Ichthyosis
- Synonyms:
- Ichthyosis (disease)
- Identifiers:
- MONDO: MONDO:0019269; MedGen: C0020757; Human Phenotype Ontology: HP:0008064
-
Related DataSets for GEO DataSets (Select 1709) (6)
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Last Updated: Oct 20, 2024