DSG1-AS1

DSG1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 18:31327577-31426995

Links

ENSG00000266729 ∙ NCBI:101927718 ∙ ∙ HGNC:51115 ∙ ∙ ∙ 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 DSG1-AS1 gene.

• not provided (334 variants)
• Hypotrichosis 6 (111 variants)
• Inborn genetic diseases (86 variants)
• Severe dermatitis-multiple allergies-metabolic wasting syndrome (4 variants)
• not specified (4 variants)
• Palmoplantar keratoderma i, striate, focal, or diffuse (3 variants)
• Palmoplantar keratoderma i, striate, focal, or diffuse;Severe dermatitis-multiple allergies-metabolic wasting syndrome (2 variants)
• Severe dermatitis-multiple allergies-metabolic wasting syndrome;Palmoplantar keratoderma i, striate, focal, or diffuse (1 variants)
• DSG1-related condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DSG1-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)			2	2		4
splice region						0
non coding	13	6	249	133	57	458
Total	13	6	251	135	57

Highest pathogenic variant AF is 0.0000263

Variants in DSG1-AS1

This is a list of pathogenic ClinVar variants found in the DSG1-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
18-31328127-G-A			Benign (Nov 11, 2018)
18-31328171-C-T			Likely benign (Jan 25, 2023)
18-31328176-G-C			Likely benign (Dec 11, 2023)
18-31328177-T-C			Likely benign (May 25, 2021)
18-31328181-T-C			Likely benign (Apr 24, 2022)
18-31328190-T-C			Uncertain significance (May 19, 2022)
18-31328191-T-C			Likely benign (Jan 21, 2024)
18-31328196-C-G			Pathogenic (Sep 28, 2023)
18-31328207-G-T		Inborn genetic diseases	Uncertain significance (Aug 28, 2024)
18-31328213-C-T			Pathogenic (Aug 16, 2022)
18-31328215-G-C			Benign (Jan 29, 2024)
18-31328217-A-G			Uncertain significance (Dec 26, 2021)
18-31328221-T-C			Likely benign (Nov 12, 2021)
18-31328222-A-T			Uncertain significance (Jan 22, 2024)
18-31328228-C-T			Uncertain significance (Aug 16, 2022)
18-31328252-C-T		DSG1-related disorder	Pathogenic (Jul 06, 2023)
18-31328267-A-T			Uncertain significance (Jul 19, 2023)
18-31328284-GA-G			Pathogenic (Dec 27, 2021)
18-31328289-C-G			Uncertain significance (Dec 07, 2023)
18-31328293-T-C			Likely benign (Aug 09, 2022)
18-31328303-A-G			Uncertain significance (Apr 13, 2022)
18-31328308-A-AT			Pathogenic (May 27, 2023)
18-31328311-C-G			Likely benign (Jul 23, 2022)
18-31328315-G-A			Uncertain significance (Sep 14, 2022)
18-31328316-T-C			Uncertain significance (Oct 18, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP