CCNO-DT

CCNO divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 5:55233050-55295578

Links

ENSG00000251307 ∙ ∙ ∙ HGNC:55543 ∙ ∙ ∙ 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 CCNO-DT gene.

• Inborn genetic diseases (40 variants)
• Malignant tumor of prostate (1 variants)
• Stuve-Wiedemann syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCNO-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	1		40	1		42
Total	1	0	40	1	0

Variants in CCNO-DT

This is a list of pathogenic ClinVar variants found in the CCNO-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
5-55233077-G-A			Likely benign (Dec 24, 2019)
5-55233133-A-C		Primary ciliary dyskinesia 29	Uncertain significance (Mar 21, 2025)
5-55233135-C-T		Primary ciliary dyskinesia	Uncertain significance (Sep 04, 2023)
5-55233140-C-T		Primary ciliary dyskinesia	Uncertain significance (May 25, 2022)
5-55233147-G-A		Primary ciliary dyskinesia	Uncertain significance (May 12, 2017)
5-55233153-C-A		Primary ciliary dyskinesia	Uncertain significance (Aug 09, 2022)
5-55233154-G-A		Primary ciliary dyskinesia	Uncertain significance (Aug 22, 2022)
5-55233156-G-A		Primary ciliary dyskinesia 29	Uncertain significance (Aug 17, 2018)
5-55233170-C-T		Primary ciliary dyskinesia • CCNO-related disorder	Benign (Dec 22, 2024)
5-55233173-G-A		Primary ciliary dyskinesia	Likely benign (Nov 19, 2024)
5-55233182-G-A		Primary ciliary dyskinesia	Likely benign (Jun 13, 2023)
5-55233188-C-T		Primary ciliary dyskinesia	Likely benign (Dec 05, 2024)
5-55233191-C-A		Primary ciliary dyskinesia	Likely benign (Feb 19, 2022)
5-55233191-C-T		Primary ciliary dyskinesia	Likely benign (Jul 16, 2024)
5-55233196-T-TG		Primary ciliary dyskinesia	Pathogenic (Aug 20, 2022)
5-55233197-G-T		Primary ciliary dyskinesia	Likely benign (Apr 28, 2023)
5-55233207-T-G		Inborn genetic diseases	Uncertain significance (May 03, 2023)
5-55233209-G-A		Primary ciliary dyskinesia	Likely benign (May 06, 2024)
5-55233217-G-A		Primary ciliary dyskinesia	Pathogenic (Oct 04, 2024)
5-55233221-GT-G		Primary ciliary dyskinesia	Pathogenic (Aug 07, 2022)
5-55233223-A-G		Primary ciliary dyskinesia	Uncertain significance (Feb 24, 2024)
5-55233236-C-T			Likely benign (Jul 31, 2018)
5-55233239-T-C		Primary ciliary dyskinesia	Likely benign (Jan 03, 2023)
5-55233243-T-C		Primary ciliary dyskinesia	Uncertain significance (Mar 19, 2020)
5-55233244-C-G		Inborn genetic diseases	Uncertain significance (Feb 17, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP