TBX3-AS1

TBX3 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 12:114681703-114767992

Links

ENSG00000257817 ∙ NCBI:105370000 ∙ ∙ HGNC:55471 ∙ ∙ ∙ 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 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		1
splice region						0
non coding	2	2	37	14	18	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)
12-114682789-GGGA-G		Ulnar-mammary syndrome	Likely benign (Jun 19, 2023)
12-114682811-C-A		Ulnar-mammary syndrome	Likely pathogenic (-)
12-114682816-C-T			Uncertain significance (Jun 04, 2021)
12-114682818-G-A		Inborn genetic diseases	Uncertain significance (May 30, 2024)
12-114682823-G-A		Ulnar-mammary syndrome	Likely benign (Jan 12, 2024)
12-114682831-C-A		Inborn genetic diseases	Likely pathogenic (Nov 06, 2017)
12-114682835-C-T		Ulnar-mammary syndrome	Likely benign (Mar 20, 2023)
12-114682838-G-A		TBX3-related disorder	Likely benign (Oct 07, 2021)
12-114682864-A-C		Ulnar-mammary syndrome	Likely pathogenic (Jan 27, 2022)
12-114682865-A-C		Ulnar-mammary syndrome	Likely benign (Mar 02, 2023)
12-114682877-C-T		Ulnar-mammary syndrome • TBX3-related disorder	Uncertain significance (Jan 13, 2018)
12-114682891-T-TG		Ulnar-mammary syndrome	Likely pathogenic (Jun 22, 2023)
12-114682892-G-A		Ulnar-mammary syndrome	Benign (Jan 12, 2018)
12-114682915-C-T		TBX3-related disorder	Uncertain significance (Aug 09, 2024)
12-114682918-G-A		Inborn genetic diseases • Ulnar-mammary syndrome	Uncertain significance (Oct 07, 2023)
12-114682919-C-T		Ulnar-mammary syndrome • TBX3-related disorder	Likely benign (Nov 27, 2023)
12-114682920-T-C			Likely benign (Dec 29, 2017)
12-114682923-A-C		TBX3-related disorder	Uncertain significance (Jan 16, 2024)
12-114682937-C-G		Ulnar-mammary syndrome	Uncertain significance (Oct 04, 2023)
12-114682938-C-T		Ulnar-mammary syndrome	Uncertain significance (Jan 12, 2018)
12-114682947-G-A		TBX3-related disorder	Uncertain significance (Aug 22, 2024)
12-114682947-G-T		Inborn genetic diseases	Uncertain significance (Jul 26, 2022)
12-114682954-G-T		Ulnar-mammary syndrome	Uncertain significance (Nov 08, 2019)
12-114682955-C-T		Ulnar-mammary syndrome • TBX3-related disorder	Likely benign (Mar 30, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP