DDN-AS1
Basic information
Region (hg38): 12:48998367-49019243
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (16 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the DDN-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) | 0 | |||||
splice region | 0 | |||||
non coding | 16 | 16 | ||||
Total | 0 | 0 | 16 | 0 | 0 |
Variants in DDN-AS1
This is a list of pathogenic ClinVar variants found in the DDN-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 |
---|---|---|---|---|
12-48998370-G-A | not specified | Uncertain significance (Aug 10, 2021) | ||
12-48998416-C-T | not specified | Uncertain significance (Aug 12, 2021) | ||
12-48998604-A-G | not specified | Uncertain significance (Nov 17, 2022) | ||
12-48998604-A-T | not specified | Uncertain significance (Jun 14, 2024) | ||
12-48998635-G-A | not specified | Uncertain significance (Mar 11, 2024) | ||
12-48999083-G-A | not specified | Uncertain significance (Aug 08, 2023) | ||
12-48999083-G-T | not specified | Uncertain significance (Jan 03, 2024) | ||
12-48999125-T-A | not specified | Uncertain significance (Oct 06, 2021) | ||
12-48999251-T-C | not specified | Uncertain significance (May 05, 2023) | ||
12-49002905-C-A | EBV-positive nodal T- and NK-cell lymphoma | Likely benign (-) | ||
12-49003186-A-T | not specified | Uncertain significance (Dec 16, 2023) | ||
12-49003203-G-C | not specified | Uncertain significance (Aug 26, 2022) | ||
12-49003817-C-T | not specified | Uncertain significance (Apr 09, 2024) | ||
12-49003819-T-C | not specified | Uncertain significance (May 26, 2023) | ||
12-49003834-G-A | not specified | Uncertain significance (May 08, 2024) | ||
12-49003837-C-T | not specified | Uncertain significance (Oct 29, 2021) | ||
12-49004572-G-T | not specified | Uncertain significance (Aug 08, 2023) | ||
12-49004581-C-T | not specified | Uncertain significance (Jul 06, 2021) | ||
12-49005325-C-T | not specified | Uncertain significance (Nov 18, 2022) | ||
12-49005789-A-G | not specified | Uncertain significance (Nov 03, 2023) | ||
12-49005805-G-A | not specified | Uncertain significance (Aug 16, 2021) | ||
12-49005826-A-G | not specified | Uncertain significance (Nov 08, 2021) | ||
12-49005837-T-C | not specified | Uncertain significance (Jan 09, 2024) | ||
12-49013080-C-T | not specified | Uncertain significance (Oct 06, 2021) | ||
12-49013100-G-A | not specified | Uncertain significance (Jul 26, 2021) |
GnomAD
Source:
dbNSFP
Source: