NM_000104.4(CYP1B1):c.868dup (p.Arg290fs) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 18, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002490665.8
Allele description [Variation Report for NM_000104.4(CYP1B1):c.868dup (p.Arg290fs)]
NM_000104.4(CYP1B1):c.868dup (p.Arg290fs)
Condition(s)
- Name:
- Glaucoma 3A
- Synonyms:
- Glaucoma 3, primary congenital, A
- Identifiers:
- MONDO: MONDO:0009277; MedGen: C1856439; Orphanet: 98976; Orphanet: 98977; OMIM: 231300
- Name:
- Glaucoma 3, primary infantile, B
- Synonyms:
- GLAUCOMA, PRIMARY CONGENITAL, TYPE B; GLC3B; GLC3 type B; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010968; MedGen: C1832977; Orphanet: 98976; OMIM: 600975
Assertion and evidence details
Last Updated: Jul 29, 2024