EXO5-DT

EXO5 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 1:40486789-40508720

Links

ENSG00000238287 ∙ NCBI:105378672 ∙ ∙ HGNC:55647 ∙ ∙ ∙ 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 EXO5-DT gene.

• Inborn genetic diseases (19 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EXO5-DT 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			19	1		20
Total	0	0	19	1	0

Variants in EXO5-DT

This is a list of pathogenic ClinVar variants found in the EXO5-DT region.

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

Position	Type	Phenotype	Significance	ClinVar
1-40489093-G-T		not specified	Uncertain significance (Jan 18, 2023)
1-40489109-A-G		not specified	Uncertain significance (Mar 25, 2024)
1-40489110-T-C		not specified	Uncertain significance (Aug 13, 2021)
1-40489115-A-G		not specified	Likely benign (Jun 23, 2023)
1-40489116-T-C		not specified	Uncertain significance (Aug 26, 2024)
1-40489137-G-T		not specified	Uncertain significance (Jan 02, 2025)
1-40489173-G-A		not specified	Uncertain significance (Oct 20, 2023)
1-40489205-G-C			Benign (Aug 03, 2017)
1-40489531-T-C		not specified	Uncertain significance (Apr 25, 2022)
1-40489555-A-T		not specified	Uncertain significance (Oct 26, 2024)
1-40489556-T-C		not specified	Uncertain significance (Aug 27, 2024)
1-40494986-T-C		not specified	Uncertain significance (Jan 05, 2022)
1-40495008-G-A		not specified	Uncertain significance (Sep 01, 2024)
1-40495115-A-C		not specified	Uncertain significance (Jun 16, 2023)
1-40495122-C-T		not specified	Uncertain significance (Jan 23, 2024)
1-40495125-A-C		not specified	Uncertain significance (May 29, 2024)
1-40495133-A-G		not specified	Uncertain significance (Oct 10, 2023)
1-40495134-G-T		not specified	Uncertain significance (Aug 17, 2022)
1-40495215-A-G		not specified	Uncertain significance (Dec 02, 2022)
1-40495229-C-T		not specified	Uncertain significance (Dec 19, 2022)
1-40495241-A-G		not specified	Uncertain significance (Oct 16, 2024)
1-40495274-A-C		not specified	Uncertain significance (May 05, 2022)
1-40495294-A-C		not specified	Uncertain significance (Jan 20, 2025)
1-40495295-T-A		not specified	Uncertain significance (Aug 22, 2023)
1-40495317-T-A		not specified	Uncertain significance (Jun 22, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP