CYP1B1-AS1
Basic information
Region (hg38): 2:38073447-38231651
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
Variants in CYP1B1-AS1
This is a list of pathogenic ClinVar variants found in the CYP1B1-AS1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
2-38074071-G-A | Likely benign (May 25, 2020) | |||
2-38074328-G-C | Congenital glaucoma | Likely benign (Nov 14, 2023) | ||
2-38074330-C-A | Congenital glaucoma | Likely benign (Apr 09, 2023) | ||
2-38074338-G-T | Congenital glaucoma | Likely benign (May 30, 2023) | ||
2-38074339-G-T | Congenital glaucoma | Likely benign (Nov 13, 2023) | ||
2-38074339-GCTTTA-G | Congenital glaucoma | Likely pathogenic (Dec 30, 2023) | ||
2-38074340-C-G | Congenital glaucoma | Uncertain significance (Oct 13, 2023) | ||
2-38074341-TTTACC-G | Anterior segment dysgenesis 6 | Likely pathogenic (Feb 24, 2024) | ||
2-38074343-T-TA | Uncertain significance (Nov 28, 2023) | |||
2-38074353-AGAG-A | Anterior segment dysgenesis 6 | Likely pathogenic (Aug 14, 2023) | ||
2-38074356-G-A | not specified • Glaucoma 3A;Glaucoma 3, primary infantile, B;Anterior segment dysgenesis 6 • Congenital glaucoma | Conflicting classifications of pathogenicity (Jul 30, 2024) | ||
2-38074360-G-A | Congenital glaucoma | Likely benign (Jan 02, 2023) | ||
2-38074360-G-C | Congenital glaucoma | Likely benign (Oct 06, 2023) | ||
2-38074366-C-T | Anterior segment dysgenesis 6 | Pathogenic (Jan 19, 2022) | ||
2-38074374-G-A | Congenital glaucoma | Likely benign (Jan 27, 2023) | ||
2-38074378-G-A | Congenital glaucoma | Likely benign (Aug 01, 2023) | ||
2-38074378-G-T | Congenital glaucoma | Likely benign (Sep 05, 2023) | ||
2-38074393-C-T | CYP1B1-related disorder | Likely benign (Mar 19, 2021) | ||
2-38074395-G-A | Anterior segment dysgenesis 6 | Likely pathogenic (Jan 31, 2023) | ||
2-38074396-G-A | Congenital glaucoma | Likely benign (Jan 10, 2023) | ||
2-38074398-TGGCGCCGAA-T | Congenital glaucoma | Pathogenic (Jan 10, 2023) | ||
2-38074400-GC-AA | Congenital glaucoma • Anterior segment dysgenesis 6 • Primary congenital glaucoma | Pathogenic (Mar 03, 2024) | ||
2-38074402-G-A | Congenital glaucoma | Likely benign (Aug 24, 2023) | ||
2-38074404-C-T | Glaucoma 3A • Primary congenital glaucoma • Anterior segment dysgenesis 6 • Congenital glaucoma | Pathogenic/Likely pathogenic (Feb 19, 2024) | ||
2-38074410-TGTCA-T | Glaucoma 3A | Likely pathogenic (Aug 25, 2019) |
GnomAD
Source:
dbNSFP
Source: