NM_003221.4(TFAP2B):c.830C>G (p.Ser277Trp) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 14, 2014
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000415141.2
Allele description [Variation Report for NM_003221.4(TFAP2B):c.830C>G (p.Ser277Trp)]
NM_003221.4(TFAP2B):c.830C>G (p.Ser277Trp)
Condition(s)
- Name:
- Hypertelorism
- Identifiers:
- MedGen: C0020534; OMIM: 145400; Human Phenotype Ontology: HP:0000316
- Name:
- Upslanted palpebral fissure
- Identifiers:
- MedGen: C0423109; Human Phenotype Ontology: HP:0000582
- Name:
- Clinodactyly of the 5th finger
- Identifiers:
- MedGen: C1850049; Human Phenotype Ontology: HP:0004209
- Name:
- Opacification of the corneal stroma
- Identifiers:
- MedGen: C0423250; Human Phenotype Ontology: HP:0007759
- Name:
- Bifid nasal tip
- Identifiers:
- MedGen: C0426428; Human Phenotype Ontology: HP:0000456
Assertion and evidence details
Last Updated: Apr 9, 2023