DNAAF3-AS1

DNAAF3 antisense RNA 1, the group of Antisense RNAs

Basic information

Links

ENSG00000267577

∙ NCBI:101930593 ∙ ∙ HGNC:55292 ∙ ∙ ∙ 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 DNAAF3-AS1 gene.

Ciliary dyskinesia (303 variants)
not provided (56 variants)
Inborn genetic diseases (29 variants)
Primary ciliary dyskinesia 2 (26 variants)
not specified (25 variants)
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome (16 variants)
Dilated Cardiomyopathy, Recessive (13 variants)
Familial restrictive cardiomyopathy (13 variants)
Hypertrophic cardiomyopathy (13 variants)
DNAAF3-related condition (3 variants)
Hypertrophic cardiomyopathy 7 (3 variants)
Cardiomyopathy, familial restrictive, 1 (3 variants)
Dilated cardiomyopathy 2A (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAAF3-AS1 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)		1 clinvar	2 clinvar	1 clinvar		4
splice region ? Intron variants in splice region, excluding donor/acceptor (+/-2bp)						0
non coding ? UTR, intron and other, non coding variants	22 clinvar	8 clinvar	166 clinvar	138 clinvar	24 clinvar	358
Total	22	9	168	139	24

Highest pathogenic variant AF is 0.000105

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP