TSBP1-AS1

TSBP1 and BTNL2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 6:32254640-32407763

Links

ENSG00000225914 ∙ NCBI:101929163 ∙ ∙ HGNC:39756 ∙ ∙ ∙ 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 TSBP1-AS1 gene.

• Inborn genetic diseases (12 variants)
• not provided (5 variants)
• Sarcoidosis, susceptibility to, 2 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TSBP1-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			12	1	4	17
Total	0	0	12	1	4

Variants in TSBP1-AS1

This is a list of pathogenic ClinVar variants found in the TSBP1-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
6-32293553-C-T		not specified	Uncertain significance (Sep 17, 2021)
6-32293734-C-T		not specified	Uncertain significance (Jun 22, 2021)
6-32394744-C-G		not specified	Uncertain significance (Nov 29, 2023)
6-32394774-C-T		not specified	Uncertain significance (Jul 07, 2022)
6-32394816-C-T		not specified	Uncertain significance (Apr 28, 2022)
6-32394902-G-A			Benign (Mar 30, 2018)
6-32394953-T-C		not specified	Uncertain significance (Oct 26, 2022)
6-32396039-T-T		Sarcoidosis, susceptibility to, 2	risk factor (Apr 01, 2005)
6-32396068-T-G		not specified	Uncertain significance (Dec 08, 2023)
6-32396099-G-A		not specified	Uncertain significance (Feb 16, 2023)
6-32396120-G-T		not specified	Likely benign (May 28, 2023)
6-32396201-C-T		not specified	Uncertain significance (May 27, 2022)
6-32396267-G-A			Benign (Aug 01, 2024)
6-32396305-G-T		not specified	Uncertain significance (Mar 25, 2024)
6-32396360-G-C		not specified	Uncertain significance (Jul 14, 2022)
6-32402929-A-G			Uncertain significance (May 26, 2023)
6-32402952-G-A		not specified	Uncertain significance (Aug 08, 2023)
6-32403082-C-T			Benign (May 29, 2018)
6-32403129-T-C		not specified	Uncertain significance (Jan 10, 2023)
6-32403170-A-G			Uncertain significance (-)
6-32403192-TG-T			Benign (Jul 15, 2020)
6-32404983-T-G		not specified	Uncertain significance (Apr 23, 2024)
6-32405004-T-C		not specified	Uncertain significance (Aug 12, 2021)
6-32405014-C-T			Benign (Aug 01, 2024)
6-32405020-G-A		not specified	Uncertain significance (Feb 05, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP