NM_022336.4(EDAR):c.674C>T (p.Pro225Leu) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 2, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001218031.2
Allele description
NM_022336.4(EDAR):c.674C>T (p.Pro225Leu)
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
Assertion and evidence details
Last Updated: Apr 23, 2022