NM_000104.4(CYP1B1):c.141_142inv (p.Arg48Gly) AND Congenital glaucoma
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003593562.1
Allele description [Variation Report for NM_000104.4(CYP1B1):c.141_142inv (p.Arg48Gly)]
NM_000104.4(CYP1B1):c.141_142inv (p.Arg48Gly)
Condition(s)
- Name:
- Congenital glaucoma
- Identifiers:
- MONDO: MONDO:0020366; MedGen: C0020302
Assertion and evidence details
Last Updated: Feb 20, 2024