DHDDS-AS1

DHDDS antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 1:26429548-26473892

Links

ENSG00000225891 ∙ NCBI:101928324 ∙ ∙ HGNC:40925 ∙ ∙ ∙ 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 DHDDS-AS1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DHDDS-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						0
Total	0	0	0	0	0

Variants in DHDDS-AS1

This is a list of pathogenic ClinVar variants found in the DHDDS-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
1-26432282-G-A		Retinitis pigmentosa	Benign (Jan 13, 2018)
1-26432289-C-T		Retinitis pigmentosa	Uncertain significance (Jan 12, 2018)
1-26432313-G-A		Retinitis pigmentosa	Likely benign (Jan 12, 2018)
1-26432658-A-G			Benign (Jul 27, 2018)
1-26432893-T-G		Retinitis pigmentosa	Uncertain significance (Jan 12, 2018)
1-26432909-G-A		Retinitis pigmentosa	Uncertain significance (Jan 13, 2018)
1-26432944-CTA-C		Retinitis pigmentosa 59	Uncertain significance (Oct 05, 2023)
1-26432951-A-G		Retinitis pigmentosa 59	Likely benign (Oct 27, 2023)
1-26432957-C-T		Retinitis pigmentosa 59	Likely benign (Apr 28, 2023)
1-26432964-G-A		Retinitis pigmentosa 59	Uncertain significance (Jan 10, 2024)
1-26432965-G-A		Retinitis pigmentosa 59	Uncertain significance (May 08, 2020)
1-26432967-G-C		Retinitis pigmentosa 59	Uncertain significance (Dec 11, 2023)
1-26432978-T-C		Retinitis pigmentosa 59 • DHDDS-related disorder	Likely benign (Nov 18, 2024)
1-26432980-G-A		Retinitis pigmentosa 59	Pathogenic (Nov 19, 2024)
1-26432985-C-A		Retinitis pigmentosa 59	Likely benign (Aug 18, 2023)
1-26432985-C-G		Inborn genetic diseases	Uncertain significance (Jun 06, 2023)
1-26432985-C-T			Uncertain significance (May 25, 2022)
1-26432987-G-A		Retinitis pigmentosa 59	Likely benign (Jun 14, 2022)
1-26432987-G-C		Retinitis pigmentosa 59	Likely benign (Jul 06, 2021)
1-26432989-T-A		Retinitis pigmentosa 59	Uncertain significance (Feb 16, 2024)
1-26432990-C-T		Retinitis pigmentosa 59	Likely benign (Nov 10, 2020)
1-26432996-C-T		Retinitis pigmentosa 59	Likely benign (Sep 15, 2022)
1-26432998-A-G		Retinitis pigmentosa • Retinitis pigmentosa 59	Uncertain significance (Jan 11, 2025)
1-26432999-C-A			Uncertain significance (Nov 02, 2022)
1-26433001-T-G		Retinitis pigmentosa 59	Uncertain significance (Aug 10, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP