DSP-AS1

DSP antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 6:7539659-7543119

Links

ENSG00000261189 ∙ NCBI:101928076 ∙ ∙ HGNC:56039 ∙ ∙ ∙ 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 DSP-AS1 gene.

• Cardiomyopathy (53 variants)
• Arrhythmogenic cardiomyopathy with wooly hair and keratoderma;Arrhythmogenic right ventricular dysplasia 8 (44 variants)
• Cardiovascular phenotype (39 variants)
• not provided (38 variants)
• Arrhythmogenic right ventricular dysplasia 8;Arrhythmogenic cardiomyopathy with wooly hair and keratoderma (33 variants)
• not specified (18 variants)
• Woolly hair-skin fragility syndrome (17 variants)
• Lethal acantholytic epidermolysis bullosa (17 variants)
• Arrhythmogenic right ventricular dysplasia 8 (12 variants)
• 6 conditions (10 variants)
• Arrhythmogenic right ventricular cardiomyopathy (9 variants)
• Epidermolysis bullosa simplex due to plakophilin deficiency (6 variants)
• Primary dilated cardiomyopathy (2 variants)
• Keratosis palmoplantaris striata 2 (1 variants)
• Dilated cardiomyopathy 1S (1 variants)
• Inborn genetic diseases (1 variants)
• DSP-related condition (1 variants)
• Arrhythmogenic cardiomyopathy (1 variants)
• Right ventricular cardiomyopathy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DSP-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)						0
splice region						0
non coding	2	6	65	54	9	136
Total	2	6	65	54	9

Variants in DSP-AS1

This is a list of pathogenic ClinVar variants found in the DSP-AS1 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-7541350-G-A			Benign (Jun 14, 2018)
6-7541378-G-C			Benign (Jun 18, 2018)
6-7541614-C-G			Uncertain significance (Aug 31, 2023)
6-7541635-C-T		Lethal acantholytic epidermolysis bullosa • Woolly hair-skin fragility syndrome • Epidermolysis bullosa simplex due to plakophilin deficiency • Arrhythmogenic right ventricular cardiomyopathy	Likely benign (Jun 14, 2016)
6-7541656-A-G		Woolly hair-skin fragility syndrome • Epidermolysis bullosa simplex due to plakophilin deficiency • Arrhythmogenic right ventricular cardiomyopathy • Lethal acantholytic epidermolysis bullosa	Uncertain significance (Jun 14, 2016)
6-7541688-C-A		Epidermolysis bullosa simplex due to plakophilin deficiency • Arrhythmogenic right ventricular cardiomyopathy • Woolly hair-skin fragility syndrome • Lethal acantholytic epidermolysis bullosa	Uncertain significance (Jun 14, 2016)
6-7541726-G-T		Arrhythmogenic right ventricular cardiomyopathy • Lethal acantholytic epidermolysis bullosa • Epidermolysis bullosa simplex due to plakophilin deficiency • Woolly hair-skin fragility syndrome	Uncertain significance (Jun 14, 2016)
6-7541737-T-C		Arrhythmogenic right ventricular cardiomyopathy • Woolly hair-skin fragility syndrome • Epidermolysis bullosa simplex due to plakophilin deficiency • Lethal acantholytic epidermolysis bullosa	Uncertain significance (Jun 14, 2016)
6-7541759-G-A		Lethal acantholytic epidermolysis bullosa • Woolly hair-skin fragility syndrome • Arrhythmogenic right ventricular dysplasia 8 • 6 conditions	Uncertain significance (Sep 03, 2021)
6-7541812-G-A		Woolly hair-skin fragility syndrome • Arrhythmogenic right ventricular dysplasia 8 • Lethal acantholytic epidermolysis bullosa	Uncertain significance (Jan 30, 2019)
6-7541840-C-T		Lethal acantholytic epidermolysis bullosa • Woolly hair-skin fragility syndrome • Arrhythmogenic right ventricular dysplasia 8	Uncertain significance (Jan 12, 2018)
6-7541846-C-T		Lethal acantholytic epidermolysis bullosa • Arrhythmogenic right ventricular dysplasia 8 • Woolly hair-skin fragility syndrome • 6 conditions	Uncertain significance (Aug 10, 2021)
6-7541872-G-A		not specified	Likely benign (Sep 01, 2017)
6-7541880-C-A		Arrhythmogenic right ventricular cardiomyopathy • Epidermolysis bullosa simplex due to plakophilin deficiency • Woolly hair-skin fragility syndrome • Lethal acantholytic epidermolysis bullosa	Uncertain significance (Jun 14, 2016)
6-7541882-C-T			Benign (Mar 03, 2015)
6-7541884-G-T			Likely benign (Apr 12, 2018)
6-7541901-C-T		Cardiomyopathy	Uncertain significance (Nov 08, 2023)
6-7541909-C-T		Cardiomyopathy	Uncertain significance (Aug 31, 2023)
6-7541914-AC-GCA		Cardiovascular phenotype	Uncertain significance (Feb 21, 2018)
6-7541915-C-CA		not specified • Lethal acantholytic epidermolysis bullosa • Arrhythmogenic right ventricular cardiomyopathy • Woolly hair-skin fragility syndrome • Cardiovascular phenotype • Cardiomyopathy • Arrhythmogenic right ventricular dysplasia 8	Conflicting classifications of pathogenicity (Sep 23, 2022)
6-7541916-A-G		Arrhythmogenic cardiomyopathy with wooly hair and keratoderma • Cardiovascular phenotype • Cardiomyopathy	Uncertain significance (Nov 02, 2023)
6-7541917-T-G		Arrhythmogenic cardiomyopathy with wooly hair and keratoderma;Arrhythmogenic right ventricular dysplasia 8 • Cardiomyopathy • not specified • Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Uncertain significance (Dec 13, 2023)
6-7541920-G-C		Arrhythmogenic cardiomyopathy with wooly hair and keratoderma;Arrhythmogenic right ventricular dysplasia 8	Uncertain significance (Dec 14, 2023)
6-7541921-C-T		Cardiomyopathy • Cardiovascular phenotype • Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Likely benign (Jul 19, 2023)
6-7541923-G-A		Arrhythmogenic cardiomyopathy with wooly hair and keratoderma;Arrhythmogenic right ventricular dysplasia 8	Uncertain significance (Oct 07, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP