TBX2-AS1

TBX2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 17:61361666-61413305

Links

ENSG00000267280 ∙ NCBI:103689912 ∙ ∙ HGNC:50355 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TBX2-AS1 gene.

• Inborn genetic diseases (29 variants)
• not provided (28 variants)
• Vertebral anomalies and variable endocrine and T-cell dysfunction (16 variants)
• TBX2-related condition (4 variants)
• not specified (3 variants)
• Microcephaly (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TBX2-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		4	40	18	14	76
Total	0	4	40	18	14

Variants in TBX2-AS1

This is a list of pathogenic ClinVar variants found in the TBX2-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
17-61368344-G-A		Inborn genetic diseases	Uncertain significance (Oct 20, 2021)
17-61368386-G-A		Inborn genetic diseases	Uncertain significance (Nov 21, 2023)
17-61368431-C-T		Inborn genetic diseases	Uncertain significance (Dec 12, 2023)
17-61368432-G-A		Inborn genetic diseases	Uncertain significance (Apr 25, 2022)
17-61368444-C-T		Inborn genetic diseases	Uncertain significance (Jun 18, 2024)
17-61368488-G-A		Inborn genetic diseases	Uncertain significance (Jan 04, 2022)
17-61392041-A-G		Inborn genetic diseases	Uncertain significance (Apr 20, 2023)
17-61392086-G-C		Inborn genetic diseases	Uncertain significance (Aug 22, 2023)
17-61392109-C-G		Inborn genetic diseases	Uncertain significance (Sep 19, 2022)
17-61392112-C-T		Inborn genetic diseases	Uncertain significance (Aug 04, 2022)
17-61392121-C-T		Inborn genetic diseases	Benign (May 09, 2022)
17-61400185-G-A			Likely benign (Oct 05, 2017)
17-61400197-G-C		TBX2-related disorder	Likely benign (Aug 01, 2023)
17-61400235-G-A		TBX2-related disorder • Vertebral anomalies and variable endocrine and T-cell dysfunction	Pathogenic/Likely pathogenic (Sep 05, 2022)
17-61400286-T-G		Vertebral anomalies and variable endocrine and T-cell dysfunction	Likely pathogenic (Jul 07, 2020)
17-61400307-C-A		not specified	Uncertain significance (Nov 21, 2022)
17-61400328-C-A		not specified	Uncertain significance (Jun 06, 2023)
17-61400340-C-T		not specified	Uncertain significance (Jan 16, 2024)
17-61400343-G-A		not specified	Uncertain significance (Oct 05, 2023)
17-61400349-C-A		not specified	Uncertain significance (May 28, 2024)
17-61400352-G-A		not specified	Uncertain significance (May 24, 2023)
17-61400362-C-CGCG		TBX2-related disorder	Likely benign (Oct 31, 2023)
17-61400367-C-T		not specified	Uncertain significance (May 05, 2023)
17-61400377-G-T		TBX2-related disorder	Likely benign (Apr 19, 2023)
17-61400392-G-C		not specified	Uncertain significance (May 20, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP