NM_001453.3(FOXC1):c.423C>G (p.Arg141=) AND Axenfeld-Rieger syndrome type 3
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jul 11, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002891153.3
Allele description [Variation Report for NM_001453.3(FOXC1):c.423C>G (p.Arg141=)]
NM_001453.3(FOXC1):c.423C>G (p.Arg141=)
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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Protein Links for Nucleotide (Select 1519243214) (0)
Protein
-
OMIM Links for Nucleotide (Select 1519243214) (2)
OMIM
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Last Updated: Sep 29, 2024