DST-AS1

DST antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 6:56843928-56864338

Links

ENSG00000231441 ∙ NCBI:101930010 ∙ ∙ HGNC:40098 ∙ ∙ ∙ 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 DST-AS1 gene.

• not provided (4 variants)
• Inborn genetic diseases (3 variants)
• Hereditary sensory and autonomic neuropathy type 6 (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DST-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	1	1	3	3	1	9
Total	1	1	3	3	1

Highest pathogenic variant AF is 0.0000131

Variants in DST-AS1

This is a list of pathogenic ClinVar variants found in the DST-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
6-56851277-C-A			Benign (Mar 27, 2021)
6-56851304-G-A			Likely benign (Apr 29, 2021)
6-56851406-G-A		Hereditary sensory and autonomic neuropathy type 6	Pathogenic (Jun 28, 2022)
6-56851414-G-A		Inborn genetic diseases	Uncertain significance (Nov 16, 2021)
6-56851414-G-T		Hereditary sensory and autonomic neuropathy type 6	Pathogenic/Likely pathogenic (Oct 15, 2021)
6-56851434-C-T			Likely benign (Mar 01, 2022)
6-56851443-C-A			Likely benign (Feb 01, 2024)
6-56851494-G-C			Likely benign (Jul 01, 2022)
6-56851510-G-A			Uncertain significance (Apr 24, 2024)
6-56851519-G-A		not specified	Uncertain significance (Dec 13, 2023)
6-56851574-T-C		Inborn genetic diseases	Uncertain significance (Mar 01, 2023)
6-56851585-T-C		DST-related disorder	Likely benign (May 27, 2022)
6-56851594-T-C		Inborn genetic diseases	Uncertain significance (Nov 01, 2019)
6-56851612-G-T		DST-related disorder	Likely benign (Dec 01, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP