NM_001453.3(FOXC1):c.297C>G (p.Ile99Met) AND Axenfeld-Rieger syndrome type 3
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003064960.2
Allele description [Variation Report for NM_001453.3(FOXC1):c.297C>G (p.Ile99Met)]
NM_001453.3(FOXC1):c.297C>G (p.Ile99Met)
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
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aquifer metagenome
aquifer metagenomeaquifer metagenome from Crystal Geyser 2014BioProject
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BioProject Links for Protein (Select 1277923830) (1)
BioProject
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BioSample for Assembly (Select 22494321) (0)
BioSample
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Last Updated: Feb 14, 2024