NM_001368894.2(PAX6):c.*207G>A AND Congenital aniridia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000366665.6
Allele description [Variation Report for NM_001368894.2(PAX6):c.*207G>A]
NM_001368894.2(PAX6):c.*207G>A
Condition(s)
- Name:
- Congenital aniridia (AN)
- Synonyms:
- Aniridia
- Identifiers:
- MONDO: MONDO:0019172; MedGen: C0003076; Human Phenotype Ontology: HP:0000526
Assertion and evidence details
Last Updated: Jan 26, 2024