AJUBA-DT

AJUBA divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 14:22977979-23006709

Links

ENSG00000258457NCBI:107984660HGNC:55449GenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

  • Inborn genetic diseases (4 variants)
  • not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AJUBA-DT 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
4
clinvar
1
clinvar
2
clinvar
7
Total 0 0 4 1 2

Variants in AJUBA-DT

This is a list of pathogenic ClinVar variants found in the AJUBA-DT region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
14-22981318-C-T not specified Uncertain significance (May 20, 2024)3279787
14-22981359-C-T not specified Uncertain significance (Jan 08, 2024)3103308
14-22981366-G-T not specified Uncertain significance (May 02, 2024)3279778
14-22981401-C-T not specified Uncertain significance (Oct 03, 2022)2315190
14-22981405-C-T not specified Uncertain significance (Oct 17, 2023)3103306
14-22981492-G-T not specified Uncertain significance (Apr 19, 2024)3279762
14-22981507-T-C not specified Uncertain significance (Mar 06, 2023)2457822
14-22981545-A-G not specified Uncertain significance (Sep 14, 2023)2624155
14-22981639-C-T not specified Uncertain significance (Oct 29, 2021)3103302
14-22981641-G-C not specified Uncertain significance (Apr 24, 2023)2557362
14-22981651-C-T not specified Uncertain significance (Dec 01, 2022)2331415
14-22981675-C-T not specified Uncertain significance (Jan 08, 2024)3103299
14-22981698-C-G not specified Likely benign (Jul 22, 2022)2210710
14-22981713-C-T not specified Uncertain significance (Aug 30, 2022)2309333
14-22981788-T-C not specified Uncertain significance (Jul 09, 2021)2235565
14-22981854-G-C not specified Uncertain significance (Jan 22, 2024)3103284
14-22981857-C-T not specified Uncertain significance (Mar 30, 2024)3279795
14-22981923-G-T not specified Uncertain significance (Oct 10, 2023)3103280
14-22981970-C-G not specified Uncertain significance (Oct 13, 2023)3103274
14-22982007-C-G not specified Uncertain significance (Jan 19, 2024)3103268
14-22982139-C-G not specified Uncertain significance (Apr 28, 2022)2412306
14-22982144-C-G not specified Uncertain significance (Jul 09, 2021)2360217
14-22982200-T-C not specified Uncertain significance (Dec 28, 2022)2227438
14-22987325-C-T not specified Uncertain significance (Jul 15, 2021)2341728
14-22987481-G-A not specified Uncertain significance (Sep 17, 2021)2258933

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP