NM_000325.6(PITX2):c.618T>G (p.Ser206=) AND Hypoplasia of the iris
- Germline classification:
- Likely benign (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:
- RCV000306342.5
Allele description [Variation Report for NM_000325.6(PITX2):c.618T>G (p.Ser206=)]
NM_000325.6(PITX2):c.618T>G (p.Ser206=)
Condition(s)
- Name:
- Hypoplasia of the iris
- Identifiers:
- MedGen: C0344539; Human Phenotype Ontology: HP:0007676
Assertion and evidence details
Last Updated: Mar 10, 2024