NM_001453.3(FOXC1):c.1629C>T (p.Ser543=) AND Axenfeld-Rieger syndrome type 3
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 12, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001487127.7
Allele description [Variation Report for NM_001453.3(FOXC1):c.1629C>T (p.Ser543=)]
NM_001453.3(FOXC1):c.1629C>T (p.Ser543=)
Condition(s)
- Name:
- Axenfeld-Rieger syndrome type 3 (RIEG3)
- Synonyms:
- Axenfeld-rieger anomaly with or without cardiac defects and/or sensorineural hearing loss; Rieger syndrome type 3; Anterior chamber cleavage syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011233; MedGen: C2678503; Orphanet: 782; OMIM: 602482
Assertion and evidence details
Last Updated: Sep 29, 2024