DCHS1-AS1

DCHS1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 11:6621451-6622322

Links

ENSG00000255390 ∙ ∙ ∙ HGNC:40650 ∙ ∙ ∙ 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 DCHS1-AS1 gene.

• not provided (63 variants)
• Inborn genetic diseases (13 variants)
• Van Maldergem syndrome 1 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DCHS1-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			1
splice region						0
non coding			41	25	2	68
Total	0	0	42	25	2

Variants in DCHS1-AS1

This is a list of pathogenic ClinVar variants found in the DCHS1-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
11-6621526-TGAG-T			Likely benign (Oct 09, 2018)
11-6621604-C-T			Likely benign (Apr 14, 2019)
11-6621791-C-G			Uncertain significance (Dec 10, 2022)
11-6621793-C-G		Inborn genetic diseases	Uncertain significance (Nov 10, 2021)
11-6621794-C-T		DCHS1-related disorder	Likely benign (May 19, 2023)
11-6621795-G-A			Uncertain significance (Dec 07, 2023)
11-6621797-G-A			Likely benign (Nov 15, 2023)
11-6621806-T-C			Likely benign (May 30, 2023)
11-6621810-T-A			Uncertain significance (Dec 09, 2023)
11-6621817-C-A			Uncertain significance (Jan 09, 2024)
11-6621826-C-T			Likely benign (Mar 13, 2023)
11-6621827-G-A			Likely benign (Nov 19, 2023)
11-6621832-G-C		Inborn genetic diseases	Uncertain significance (Feb 15, 2023)
11-6621835-C-A			Uncertain significance (Dec 11, 2021)
11-6621837-G-A			Uncertain significance (Mar 10, 2023)
11-6621842-T-C			Likely benign (Jan 06, 2024)
11-6621852-T-C			Uncertain significance (Nov 02, 2023)
11-6621872-G-A			Likely benign (Feb 02, 2022)
11-6621877-C-T			Uncertain significance (Jan 19, 2024)
11-6621878-G-A			Likely benign (Sep 12, 2022)
11-6621879-G-A			Conflicting classifications of pathogenicity (Jan 21, 2024)
11-6621882-G-A			Uncertain significance (Oct 12, 2020)
11-6621885-C-T		Inborn genetic diseases	Uncertain significance (Dec 19, 2023)
11-6621886-G-A		Inborn genetic diseases	Uncertain significance (Nov 27, 2023)
11-6621889-C-T		Inborn genetic diseases	Uncertain significance (Aug 28, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP