NM_145861.4(EDARADD):c.*1962C>T AND Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001098850.4
Allele description [Variation Report for NM_145861.4(EDARADD):c.*1962C>T]
NM_145861.4(EDARADD):c.*1962C>T
Condition(s)
- Name:
- Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
- Synonyms:
- Anhidrotic ectodermal dysplasia, autosomal recessive; Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal
- Identifiers:
- MONDO: MONDO:0009147; MedGen: C3887494; Orphanet: 238468; Orphanet: 248; OMIM: 224900
-
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Last Updated: Aug 25, 2024