DSG2-AS1

DSG2 antisense RNA 1, the group of Antisense RNAs

Basic information

Links

ENSG00000264859

∙ NCBI:100652770 ∙ ∙ HGNC:51311 ∙ ∙ ∙ 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 DSG2-AS1 gene.

Arrhythmogenic right ventricular dysplasia 10 (366 variants)
Cardiomyopathy (247 variants)
Cardiovascular phenotype (173 variants)
not provided (112 variants)
not specified (74 variants)
Arrhythmogenic right ventricular cardiomyopathy (33 variants)
Arrhythmogenic right ventricular dysplasia 10;Dilated cardiomyopathy 1BB (32 variants)
Dilated Cardiomyopathy, Dominant (19 variants)
Dilated cardiomyopathy 1BB;Arrhythmogenic right ventricular dysplasia 10 (13 variants)
Inborn genetic diseases (4 variants)
Primary dilated cardiomyopathy (3 variants)
DSG2-related condition (3 variants)
Primary familial hypertrophic cardiomyopathy (3 variants)
Cardiomyopathy;Restrictive cardiomyopathy (2 variants)
Long QT syndrome (2 variants)
Dilated cardiomyopathy 1BB (2 variants)
Cardiac arrhythmia (1 variants)
Arrhythmogenic right ventricular cardiomyopathy;Cardiomyopathy (1 variants)
Cardiac arrest (1 variants)
Primary familial dilated cardiomyopathy (1 variants)
Sudden cardiac death (1 variants)
Ventricular fibrillation (1 variants)
Conduction disorder of the heart (1 variants)
Dilated cardiomyopathy 1A (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DSG2-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	3 clinvar	2 clinvar	1 clinvar		7
splice region ? Intron variants in splice region, excluding donor/acceptor (+/-2bp)						0
non coding ? UTR, intron and other, non coding variants	2 clinvar	19 clinvar	324 clinvar	190 clinvar	20 clinvar	555
Total	3	22	326	191	20

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP