NM_001453.3(FOXC1):c.398_401del (p.Asn133fs) AND Anterior segment dysgenesis 3
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002249992.1
Allele description [Variation Report for NM_001453.3(FOXC1):c.398_401del (p.Asn133fs)]
NM_001453.3(FOXC1):c.398_401del (p.Asn133fs)
Condition(s)
- Name:
- Anterior segment dysgenesis 3 (ASGD3)
- Synonyms:
- Iridogoniodysgenesis type1; Iridogoniodysgenesis anomaly, Autosomal dominant; IGDA syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0024456; MedGen: C1866560; Orphanet: 91483; OMIM: 601631
Assertion and evidence details
Last Updated: Dec 24, 2023