CHUK-DT

CHUK divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 10:100229623-100267164

Links

ENSG00000227492 ∙ ∙ ∙ HGNC:55813 ∙ ∙ ∙ 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 CHUK-DT gene.

• not provided (6 variants)
• Autosomal recessive spinocerebellar ataxia 17 (2 variants)
• Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CHUK-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			4		4	8
Total	0	0	4	0	4

Variants in CHUK-DT

This is a list of pathogenic ClinVar variants found in the CHUK-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
10-100229692-G-T			Benign (May 11, 2021)
10-100229753-C-T			Benign (Nov 10, 2018)
10-100233267-C-T			Benign (Dec 31, 2019)
10-100233273-C-T		Inborn genetic diseases	Uncertain significance (Dec 13, 2021)
10-100233276-C-T		Autosomal recessive spinocerebellar ataxia 17 • CWF19L1-related disorder	Benign (May 04, 2023)
10-100233286-TCTC-T		Autosomal recessive spinocerebellar ataxia 17	Uncertain significance (Oct 29, 2021)
10-100233292-C-T		Autosomal recessive spinocerebellar ataxia 17	Likely pathogenic (Jun 01, 2022)
10-100233301-T-C			Uncertain significance (Jul 01, 2023)
10-100233321-C-T		Autosomal recessive spinocerebellar ataxia 17	Uncertain significance (Apr 22, 2022)
10-100233333-T-A			Benign (Dec 31, 2019)
10-100235671-CAA-C		Inborn genetic diseases	Conflicting classifications of pathogenicity (Oct 17, 2022)
10-100235720-T-G		CWF19L1-related disorder	Likely benign (Oct 01, 2023)
10-100235744-T-G			Benign (Jul 04, 2018)
10-100235745-G-A		Autosomal recessive spinocerebellar ataxia 17	Uncertain significance (Oct 16, 2022)
10-100235749-C-T		Inborn genetic diseases	Uncertain significance (Nov 21, 2022)
10-100235758-G-A			Likely pathogenic (Apr 01, 2023)
10-100235766-T-C		Autosomal recessive spinocerebellar ataxia 17	Pathogenic (Mar 23, 2023)
10-100236842-T-C			Benign (Dec 31, 2019)
10-100236843-G-T			Likely benign (May 08, 2018)
10-100236880-C-A		Inborn genetic diseases	Uncertain significance (May 14, 2024)
10-100236941-G-A		Inborn genetic diseases	Uncertain significance (Feb 14, 2023)
10-100236957-G-C		Inborn genetic diseases	Uncertain significance (Apr 06, 2022)
10-100236962-G-A		Inborn genetic diseases	Uncertain significance (May 24, 2023)
10-100236976-G-T			Benign/Likely benign (Feb 01, 2024)
10-100238117-T-TC		Autosomal recessive spinocerebellar ataxia 17	Likely pathogenic (Dec 03, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP