NM_001399.5(EDA):c.457C>T (p.Arg153Cys) AND Anhidrotic ectodermal dysplasia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003478983.1
Allele description [Variation Report for NM_001399.5(EDA):c.457C>T (p.Arg153Cys)]
NM_001399.5(EDA):c.457C>T (p.Arg153Cys)
Condition(s)
- Name:
- Anhidrotic ectodermal dysplasia
- Identifiers:
- MedGen: C1706004; Human Phenotype Ontology: HP:0007476
Assertion and evidence details
Last Updated: Nov 30, 2024