NM_022336.4(EDAR):c.736G>A (p.Val246Met) AND Hypohidrotic ectodermal dysplasia
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001130392.4
Allele description [Variation Report for NM_022336.4(EDAR):c.736G>A (p.Val246Met)]
NM_022336.4(EDAR):c.736G>A (p.Val246Met)
Condition(s)
- Name:
- Hypohidrotic ectodermal dysplasia (HED)
- Identifiers:
- MONDO: MONDO:0016535; MedGen: C0406701; Orphanet: 238468; Human Phenotype Ontology: HP:0007607
Assertion and evidence details
Last Updated: Mar 30, 2024