DNAAF4-CCPG1

DNAAF4-CCPG1 readthrough (NMD candidate)

Basic information

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

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP