CEDORA
Basic information
Region (hg38): 16:83706000-83772974
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (4 variants)
- Inborn genetic diseases (2 variants)
- not specified (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CEDORA 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) | 0 | |||||
splice region | 0 | |||||
non coding | 7 | |||||
Total | 0 | 0 | 2 | 1 | 4 |
Variants in CEDORA
This is a list of pathogenic ClinVar variants found in the CEDORA region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
16-83747797-C-T | Benign (Jun 18, 2021) | |||
16-83747999-T-C | Benign (Jun 18, 2021) | |||
16-83748208-G-A | not specified | Uncertain significance (Feb 22, 2023) | ||
16-83748217-G-A | not specified | Uncertain significance (Jul 30, 2023) | ||
16-83748258-C-G | not specified | Likely benign (-) | ||
16-83748314-T-C | Benign (Jun 19, 2021) | |||
16-83748390-A-C | Benign (Jun 18, 2021) |
GnomAD
Source:
dbNSFP
Source: