NM_145861.4(EDARADD):c.*757A>C AND Hypohidrotic ectodermal dysplasia
- Germline classification:
- Uncertain significance (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:
- RCV001098738.4
Allele description [Variation Report for NM_145861.4(EDARADD):c.*757A>C]
NM_145861.4(EDARADD):c.*757A>C
Condition(s)
- Name:
- Hypohidrotic ectodermal dysplasia (HED)
- Identifiers:
- MONDO: MONDO:0016535; MedGen: C5848103; Orphanet: 238468; Human Phenotype Ontology: HP:0007607
-
AP-1 complex subunit mu-2 isoform 1 [Homo sapiens]
AP-1 complex subunit mu-2 isoform 1 [Homo sapiens]gi|666875873|ref|NP_001287816.1|Protein
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Last Updated: Jun 29, 2024