CYP1B1-AS1
Basic information
Previous symbols: [ "C2orf58" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Glaucoma 3A (49 variants)
- Congenital glaucoma (38 variants)
- Anterior segment dysgenesis 6 (36 variants)
- Irido-corneo-trabecular dysgenesis (36 variants)
- not provided (35 variants)
- not specified (27 variants)
- Inborn genetic diseases (16 variants)
- Primary congenital glaucoma (15 variants)
- Glaucoma 3A;Glaucoma 3, primary infantile, B;Anterior segment dysgenesis 6 (8 variants)
- Anterior segment dysgenesis 6;Glaucoma 3A;Glaucoma 3, primary infantile, B (5 variants)
- Glaucoma 3, primary infantile, B;Anterior segment dysgenesis 6;Glaucoma 3A (5 variants)
- CYP1B1-Related Disorders (3 variants)
- Congenital ocular coloboma (3 variants)
- Ocular anterior segment dysgenesis (3 variants)
- CYP1B1-related condition (3 variants)
- Glaucoma, primary open angle, juvenile-onset (2 variants)
- Primary open angle glaucoma (1 variants)
- Anterior segment dysgenesis 6;Glaucoma 3, primary infantile, B;Glaucoma 3A (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CYP1B1-AS1 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 0 | |||||
missense | 0 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 4 | |||||
splice region ? | 0 | |||||
non coding ? | 15 | 26 | 66 | 18 | 134 | |
Total | 16 | 26 | 68 | 18 | 10 |
Highest pathogenic variant AF is 0.000217
GnomAD
Source:
dbNSFP
Source: