DBH-AS1

DBH antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 9:133654586-133657313

Previous symbols: [ "NCRNA00118" ]

Links

ENSG00000225756 ∙ NCBI:138948 ∙ ∙ HGNC:24155 ∙ ∙ ∙ 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 DBH-AS1 gene.

• Orthostatic hypotension 1 (53 variants)
• not provided (9 variants)
• Inborn genetic diseases (4 variants)
• Sensorineural hearing impairment (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DBH-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
splice region						0
non coding			24	27	7	58
Total	0	0	26	27	7

Variants in DBH-AS1

This is a list of pathogenic ClinVar variants found in the DBH-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
9-133656438-T-C			Benign (May 25, 2021)
9-133656475-C-T			Benign (May 24, 2021)
9-133656503-G-A		Orthostatic hypotension 1	Likely benign (Aug 23, 2022)
9-133656503-G-C		Orthostatic hypotension 1	Likely benign (Oct 21, 2022)
9-133656504-G-T		Orthostatic hypotension 1	Likely benign (Jul 14, 2023)
9-133656505-G-A		Orthostatic hypotension 1	Likely benign (Jan 24, 2024)
9-133656509-C-T		Orthostatic hypotension 1	Likely benign (Dec 05, 2022)
9-133656531-C-T		Orthostatic hypotension 1	Likely benign (Oct 13, 2023)
9-133656532-G-A		Orthostatic hypotension 1 • DBH-related disorder	Conflicting classifications of pathogenicity (Dec 09, 2023)
9-133656539-T-C		Orthostatic hypotension 1 • Inborn genetic diseases	Uncertain significance (Oct 06, 2021)
9-133656541-G-A		Orthostatic hypotension 1	Uncertain significance (Aug 23, 2022)
9-133656561-C-T		Orthostatic hypotension 1 • DBH-related disorder	Uncertain significance (Mar 17, 2022)
9-133656564-G-A		Orthostatic hypotension 1	Likely benign (Aug 04, 2023)
9-133656573-C-T		Orthostatic hypotension 1	Likely benign (Sep 11, 2023)
9-133656574-C-T		Sensorineural hearing loss disorder	Uncertain significance (Sep 30, 2020)
9-133656581-C-T		Orthostatic hypotension 1	Uncertain significance (Apr 14, 2023)
9-133656582-G-A		Orthostatic hypotension 1	Likely benign (Jan 04, 2024)
9-133656586-C-G		Orthostatic hypotension 1	Uncertain significance (Oct 17, 2022)
9-133656586-CT-C		Orthostatic hypotension 1	Pathogenic (Oct 02, 2023)
9-133656599-A-G		Orthostatic hypotension 1	Uncertain significance (Jul 19, 2022)
9-133656603-C-T		Orthostatic hypotension 1	Likely benign (Aug 24, 2022)
9-133656604-G-A		Orthostatic hypotension 1	Uncertain significance (Jul 21, 2022)
9-133656612-C-T		Orthostatic hypotension 1	Likely benign (Sep 05, 2023)
9-133656615-C-T		Orthostatic hypotension 1	Likely benign (Oct 03, 2023)
9-133656616-G-A		Orthostatic hypotension 1	Uncertain significance (Dec 12, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP