CCDST
Basic information
Region (hg38): 1:152165553-152445456
Previous symbols: [ "LINC02962" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCDST 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 | 0 | |||||
Total | 0 | 0 | 0 | 0 | 0 |
Variants in CCDST
This is a list of pathogenic ClinVar variants found in the CCDST region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
1-152213255-A-T | EBV-positive nodal T- and NK-cell lymphoma | Likely benign (-) | ||
1-152213496-A-T | Likely benign (Nov 01, 2024) | |||
1-152213508-G-A | Likely benign (Nov 01, 2024) | |||
1-152213599-C-G | Benign (Mar 01, 2022) | |||
1-152213634-G-A | Likely benign (Nov 01, 2024) | |||
1-152214009-C-T | Likely benign (Nov 01, 2023) | |||
1-152214030-G-T | Likely benign (Mar 01, 2023) | |||
1-152214345-A-G | Likely benign (Jul 01, 2023) | |||
1-152214519-G-A | Likely benign (Sep 01, 2022) | |||
1-152214627-G-T | Likely benign (Nov 01, 2022) | |||
1-152214816-A-G | Likely benign (Oct 01, 2024) | |||
1-152215074-G-A | Likely benign (Oct 01, 2024) | |||
1-152215077-G-A | Likely benign (Sep 01, 2022) | |||
1-152215356-A-G | Likely benign (Oct 01, 2022) | |||
1-152215365-G-T | Likely benign (Dec 01, 2022) | |||
1-152215572-A-G | Likely benign (Dec 01, 2022) | |||
1-152216469-G-A | Likely benign (Oct 01, 2024) | |||
1-152216484-G-A | Likely benign (Oct 01, 2024) | |||
1-152218176-A-G | Likely benign (Aug 01, 2023) | |||
1-152218397-G-A | Likely benign (Aug 01, 2023) | |||
1-152218471-C-T | Likely benign (Nov 01, 2022) | |||
1-152218588-T-C | Epidermolysis bullosa simplex with nail dystrophy | Uncertain significance (Oct 01, 2022) | ||
1-152218606-C-G | Likely benign (Jan 01, 2023) | |||
1-152218749-G-A | Likely benign (Jan 01, 2023) | |||
1-152218836-G-T | Likely benign (Oct 01, 2024) |
GnomAD
Source:
dbNSFP
Source: