TBL1XR1-AS1

TBL1XR1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 3:177037405-177048141

Links

ENSG00000231310 ∙ ∙ ∙ HGNC:41243 ∙ ∙ ∙ 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 TBL1XR1-AS1 gene.

• Pierpont syndrome (80 variants)
• not provided (38 variants)
• Intellectual disability, autosomal dominant 41 (15 variants)
• Inborn genetic diseases (8 variants)
• Intellectual disability (3 variants)
• TBL1XR1-Related Disorder (2 variants)
• Neurodevelopmental disorder (2 variants)
• not specified (1 variants)
• Pierpont syndrome;Intellectual disability, autosomal dominant 41 (1 variants)
• TBL1XR1-related neurodevelopmental disorder (1 variants)
• See cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TBL1XR1-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)			2	3		5
splice region						0
non coding	9	25	30	50	8	122
Total	9	25	32	53	8

Variants in TBL1XR1-AS1

This is a list of pathogenic ClinVar variants found in the TBL1XR1-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
3-177037772-TCATC-T			Benign (Apr 01, 2023)
3-177038000-A-T			Likely benign (Jul 26, 2018)
3-177038082-C-T		Pierpont syndrome	Likely benign (Mar 26, 2022)
3-177038083-T-A		Pierpont syndrome	Likely benign (Jul 19, 2022)
3-177038085-C-G		Pierpont syndrome	Likely benign (Nov 28, 2022)
3-177038086-T-C		Pierpont syndrome	Likely benign (Aug 09, 2022)
3-177038093-A-G		Pierpont syndrome	Uncertain significance (May 30, 2023)
3-177038095-T-A			Uncertain significance (Jan 02, 2018)
3-177038111-T-C			Likely pathogenic (Jun 01, 2016)
3-177038112-C-G			Pathogenic (Nov 13, 2022)
3-177038112-C-T		Intellectual disability • Inborn genetic diseases • Intellectual disability, autosomal dominant 41 • Pierpont syndrome	Pathogenic/Likely pathogenic (Feb 23, 2023)
3-177038113-G-A		Pierpont syndrome • TBL1XR1-related disorder	Likely benign (Jul 07, 2023)
3-177038114-T-C		TBL1XR1-related neurodevelopmental disorder	Likely pathogenic (Aug 04, 2023)
3-177038116-A-C		Pierpont syndrome	Likely benign (Sep 27, 2023)
3-177038117-G-A			Likely pathogenic (Jan 24, 2019)
3-177038120-C-A		Pierpont syndrome	Likely pathogenic (May 28, 2019)
3-177038122-G-C		not specified	Likely benign (Jun 10, 2024)
3-177038123-G-A		Pierpont syndrome	Uncertain significance (Feb 02, 2022)
3-177038125-G-C		Pierpont syndrome	Likely benign (Feb 02, 2021)
3-177038130-A-G		Pierpont syndrome	Likely benign (Nov 27, 2023)
3-177038131-G-C		Pierpont syndrome	Likely benign (Apr 28, 2021)
3-177038135-T-C		Pierpont syndrome	Uncertain significance (Apr 23, 2023)
3-177038149-C-T		Pierpont syndrome	Pathogenic (Jul 26, 2020)
3-177038173-C-T		Pierpont syndrome	Likely pathogenic (Jan 09, 2019)
3-177038179-A-C			Uncertain significance (Oct 27, 2020)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP