NM_022336.4(EDAR):c.1288G>A (p.Asp430Asn) AND Hypohidrotic Ectodermal Dysplasia, Dominant
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000277963.5
Allele description [Variation Report for NM_022336.4(EDAR):c.1288G>A (p.Asp430Asn)]
NM_022336.4(EDAR):c.1288G>A (p.Asp430Asn)
Condition(s)
- Name:
- Hypohidrotic Ectodermal Dysplasia, Dominant
- Identifiers:
- MedGen: CN239335
Assertion and evidence details
Last Updated: Jun 29, 2024