DDN-AS1

DDN and PRKAG1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 12:48998367-49019243

Links

ENSG00000257913NCBI:105369758HGNC:53464GenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DDN-AS1 gene.

  • 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
clinvar
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)2366587
12-48998416-C-T not specified Uncertain significance (Aug 12, 2021)2243929
12-48998604-A-G not specified Uncertain significance (Nov 17, 2022)2327083
12-48998604-A-T not specified Uncertain significance (Jun 14, 2024)3271208
12-48998635-G-A not specified Uncertain significance (Mar 11, 2024)3080787
12-48999083-G-A not specified Uncertain significance (Aug 08, 2023)2616920
12-48999083-G-T not specified Uncertain significance (Jan 03, 2024)3080786
12-48999125-T-A not specified Uncertain significance (Oct 06, 2021)2254062
12-48999251-T-C not specified Uncertain significance (May 05, 2023)2544535
12-49002905-C-A EBV-positive nodal T- and NK-cell lymphoma Likely benign (-)2681501
12-49003186-A-T not specified Uncertain significance (Dec 16, 2023)3218720
12-49003203-G-C not specified Uncertain significance (Aug 26, 2022)2207676
12-49003817-C-T not specified Uncertain significance (Apr 09, 2024)3309939
12-49003819-T-C not specified Uncertain significance (May 26, 2023)2538443
12-49003834-G-A not specified Uncertain significance (May 08, 2024)3309940
12-49003837-C-T not specified Uncertain significance (Oct 29, 2021)2362498
12-49004572-G-T not specified Uncertain significance (Aug 08, 2023)2617508
12-49004581-C-T not specified Uncertain significance (Jul 06, 2021)2235404
12-49005325-C-T not specified Uncertain significance (Nov 18, 2022)2328162
12-49005789-A-G not specified Uncertain significance (Nov 03, 2023)3218718
12-49005805-G-A not specified Uncertain significance (Aug 16, 2021)2236796
12-49005826-A-G not specified Uncertain significance (Nov 08, 2021)2259104
12-49005837-T-C not specified Uncertain significance (Jan 09, 2024)3218719
12-49013080-C-T not specified Uncertain significance (Oct 06, 2021)2379928
12-49013100-G-A not specified Uncertain significance (Jul 26, 2021)2216362

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP