NM_145861.4(EDARADD):c.413A>T (p.Asn138Ile) AND Tooth agenesis
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001269383.2
Allele description [Variation Report for NM_145861.4(EDARADD):c.413A>T (p.Asn138Ile)]
NM_145861.4(EDARADD):c.413A>T (p.Asn138Ile)
Condition(s)
- Name:
- Tooth agenesis
- Synonyms:
- Reduced number of teeth; Decreased number of teeth; Decreased tooth count; See all synonyms [MedGen]
- Identifiers:
- MedGen: C4024202; Human Phenotype Ontology: HP:0009804
Assertion and evidence details
Last Updated: Mar 30, 2024