NM_000358.3(TGFBI):c.393G>T (p.Glu131Asp) AND Corneal dystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 28, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001157795.4
Allele description [Variation Report for NM_000358.3(TGFBI):c.393G>T (p.Glu131Asp)]
NM_000358.3(TGFBI):c.393G>T (p.Glu131Asp)
Condition(s)
- Name:
- Corneal dystrophy
- Identifiers:
- MONDO: MONDO:0018102; MedGen: C0010036; Human Phenotype Ontology: HP:0001131
Assertion and evidence details
Last Updated: Apr 9, 2023