TBX3-AS1

TBX3 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 12:114681703-114767992

Links

ENSG00000257817NCBI:105370000HGNC:55471GenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TBX3-AS1 gene.

  • Ulnar-mammary syndrome (58 variants)
  • not provided (21 variants)
  • Inborn genetic diseases (4 variants)
  • not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TBX3-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)
1
clinvar
1
splice region
0
non coding
2
clinvar
2
clinvar
37
clinvar
14
clinvar
18
clinvar
73
Total 2 2 37 15 18

Variants in TBX3-AS1

This is a list of pathogenic ClinVar variants found in the TBX3-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
12-114682517-C-CT Benign (Aug 15, 2019)1234843
12-114682789-GGGA-G Ulnar-mammary syndrome Likely benign (Jun 19, 2023)2902993
12-114682816-C-T Uncertain significance (Jun 04, 2021)1328732
12-114682818-G-A Inborn genetic diseases Uncertain significance (May 30, 2024)3324871
12-114682823-G-A Ulnar-mammary syndrome Likely benign (Jan 12, 2024)2893474
12-114682831-C-A Inborn genetic diseases Likely pathogenic (Nov 06, 2017)522089
12-114682835-C-T Ulnar-mammary syndrome Likely benign (Mar 20, 2023)2730383
12-114682838-G-A TBX3-related disorder Likely benign (Oct 07, 2021)3057044
12-114682864-A-C Ulnar-mammary syndrome Likely pathogenic (Jan 27, 2022)1338818
12-114682865-A-C Ulnar-mammary syndrome Likely benign (Mar 02, 2023)743382
12-114682877-C-T Ulnar-mammary syndrome • TBX3-related disorder Uncertain significance (Jan 13, 2018)307376
12-114682891-T-TG Ulnar-mammary syndrome Likely pathogenic (Jun 22, 2023)3075717
12-114682892-G-A Ulnar-mammary syndrome Benign (Jan 12, 2018)881883
12-114682915-C-T TBX3-related disorder Uncertain significance (Aug 09, 2024)3357872
12-114682918-G-A Inborn genetic diseases • Ulnar-mammary syndrome Uncertain significance (Oct 07, 2023)2335966
12-114682919-C-T Ulnar-mammary syndrome • TBX3-related disorder Likely benign (Nov 27, 2023)2181347
12-114682920-T-C Likely benign (Dec 29, 2017)722204
12-114682923-A-C TBX3-related disorder Uncertain significance (Jan 16, 2024)3349131
12-114682937-C-G Ulnar-mammary syndrome Uncertain significance (Oct 04, 2023)1394632
12-114682938-C-T Ulnar-mammary syndrome Uncertain significance (Jan 12, 2018)307377
12-114682947-G-A TBX3-related disorder Uncertain significance (Aug 22, 2024)3352610
12-114682947-G-T Inborn genetic diseases Uncertain significance (Jul 26, 2022)2399855
12-114682954-G-T Ulnar-mammary syndrome Uncertain significance (Nov 08, 2019)1028467
12-114682955-C-T Ulnar-mammary syndrome • TBX3-related disorder Likely benign (Mar 30, 2023)2777002
12-114682967-G-A TBX3-related disorder Likely benign (May 11, 2023)3355317

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP