NM_001174096.2(ZEB1):c.1093dup (p.Ile365fs) AND Corneal dystrophy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003313267.1
Allele description [Variation Report for NM_001174096.2(ZEB1):c.1093dup (p.Ile365fs)]
NM_001174096.2(ZEB1):c.1093dup (p.Ile365fs)
Condition(s)
- Name:
- Corneal dystrophy
- Identifiers:
- MONDO: MONDO:0018102; MedGen: C0010036; Human Phenotype Ontology: HP:0001131
-
GCH1 GTP cyclohydrolase 1 [Homo sapiens]
GCH1 GTP cyclohydrolase 1 [Homo sapiens]Gene ID:2643Gene
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Last Updated: Jul 22, 2023