TSNAX-DISC1

TSNAX-DISC1 readthrough (NMD candidate)

Basic information

Region (hg38): 1:231528652-231819244

Links

ENSG00000270106 ∙ NCBI:100303453 ∙ ∙ HGNC:49177 ∙ ∙ ∙ 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 TSNAX-DISC1 gene.

• Inborn genetic diseases (35 variants)
• not provided (34 variants)
• DISC1-related condition (4 variants)
• not specified (2 variants)
• - (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TSNAX-DISC1 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	2
splice region						0
non coding			38	11	11	60
Total	0	0	38	12	12

Variants in TSNAX-DISC1

This is a list of pathogenic ClinVar variants found in the TSNAX-DISC1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-231529260-G-C		not specified	Uncertain significance (May 17, 2023)
1-231529288-A-G			Benign (Mar 31, 2018)
1-231529292-C-T			Benign (Apr 16, 2018)
1-231561120-G-A			Benign (Jun 14, 2018)
1-231561210-A-G			Benign (Jun 26, 2018)
1-231561217-A-G		not specified	Uncertain significance (May 03, 2023)
1-231564588-G-A		not specified	Uncertain significance (Jun 26, 2023)
1-231564688-A-T		not specified	Uncertain significance (Nov 10, 2022)
1-231564696-C-T		not specified	Uncertain significance (Jan 24, 2023)
1-231564697-G-A		not specified	Uncertain significance (Feb 21, 2024)
1-231564744-G-A		not specified	Uncertain significance (Aug 04, 2023)
1-231564783-G-A		not specified	Uncertain significance (Oct 29, 2021)
1-231564841-A-G		not specified	Uncertain significance (Dec 27, 2023)
1-231626905-C-G		DISC1-related disorder	Likely benign (Jan 12, 2021)
1-231626909-C-T		DISC1-related disorder	Likely benign (Jan 04, 2021)
1-231626921-G-A			not provided (-)
1-231626938-G-A		DISC1-related disorder	Likely benign (Dec 28, 2023)
1-231632793-A-T		-	no classification for the single variant (-)
1-231693867-C-T		not specified	Uncertain significance (May 04, 2022)
1-231693919-T-G		not specified	Uncertain significance (Apr 25, 2022)
1-231693921-G-A		not specified	Uncertain significance (Jun 06, 2023)
1-231693954-C-T		DISC1-related disorder	Likely benign (Feb 24, 2024)
1-231693969-G-T		DISC1-related disorder	Benign (Jul 29, 2019)
1-231693978-G-A		not specified	Uncertain significance (Nov 10, 2022)
1-231694087-C-T		not specified	Uncertain significance (Dec 06, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Essentials

• gene_indispensability_pred: N
• gene_indispensability_score: 0.231

Gene ontology

• Molecular function: sequence-specific DNA binding