DNAAF4-CCPG1

DNAAF4-CCPG1 readthrough (NMD candidate)

Basic information

Region (hg38): 15:55355248-55498360

Previous symbols: [ "DYX1C1-CCPG1" ]

Links

ENSG00000261771 ∙ NCBI:100533483 ∙ ∙ HGNC:43019 ∙ ∙ ∙ 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 DNAAF4-CCPG1 gene.

• not provided (198 variants)
• Inborn genetic diseases (41 variants)
• Primary ciliary dyskinesia 25 (13 variants)
• Ciliary dyskinesia (7 variants)
• not specified (5 variants)
• DNAAF4-related condition (4 variants)
• Dyslexia, susceptibility to, 1;Primary ciliary dyskinesia 25 (3 variants)
• Dyslexia, susceptibility to, 1 (2 variants)
• Primary ciliary dyskinesia 25;Dyslexia, susceptibility to, 1 (2 variants)
• Developmental and epileptic encephalopathy, 80 (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAAF4-CCPG1 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)	4	3	8	6	1	22
splice region						0
non coding	11	10	111	55	37	224
Total	15	13	119	61	38

Highest pathogenic variant AF is 0.0000858

Variants in DNAAF4-CCPG1

This is a list of pathogenic ClinVar variants found in the DNAAF4-CCPG1 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-55355266-A-G			Likely benign (Oct 13, 2022)
15-55355279-C-G			Likely benign (Jan 18, 2024)
15-55355294-C-T		PIGB-related disorder	Benign (Feb 01, 2024)
15-55355300-C-T			Likely benign (Oct 23, 2023)
15-55355326-C-A			Uncertain significance (Jan 26, 2022)
15-55355336-C-A			Uncertain significance (Aug 20, 2022)
15-55355339-C-T			Likely benign (Sep 12, 2022)
15-55355361-C-T		Developmental and epileptic encephalopathy, 80	Uncertain significance (Jun 28, 2020)
15-55355362-G-A		Inborn genetic diseases	Uncertain significance (Mar 24, 2023)
15-55355372-T-C			Likely benign (Jul 06, 2022)
15-55355376-A-T			Uncertain significance (Dec 06, 2023)
15-55355378-A-G		Developmental and epileptic encephalopathy, 80	Pathogenic/Likely pathogenic (Oct 17, 2023)
15-55355385-T-C			Uncertain significance (Jul 29, 2022)
15-55355391-C-T			Uncertain significance (Dec 13, 2021)
15-55355391-CG-C		not specified • Inborn genetic diseases	Uncertain significance (Oct 16, 2023)
15-55355392-G-A			Uncertain significance (Sep 27, 2022)
15-55355393-G-C			Likely benign (Dec 23, 2023)
15-55355397-T-C			Likely benign (Sep 10, 2023)
15-55355398-TA-T			Uncertain significance (Dec 23, 2021)
15-55355411-C-T			Likely benign (Feb 03, 2023)
15-55355419-A-C		PIGB-related disorder	Benign (Feb 01, 2024)
15-55356249-C-A		not specified	Uncertain significance (Mar 05, 2024)
15-55356293-C-T		not specified	Uncertain significance (Mar 01, 2024)
15-55359581-C-T		not specified	Uncertain significance (Dec 13, 2022)
15-55359643-G-T		not specified	Uncertain significance (Apr 08, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP