PDE6B-AS1

PDE6B antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 4:652850-656213

Links

ENSG00000242686 ∙ NCBI:101928521 ∙ ∙ HGNC:40438 ∙ ∙ ∙ 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 PDE6B-AS1 gene.

• not provided (134 variants)
• Retinitis pigmentosa (21 variants)
• Congenital stationary night blindness autosomal dominant 2 (17 variants)
• Retinitis pigmentosa 40 (8 variants)
• Retinal dystrophy (8 variants)
• Inborn genetic diseases (8 variants)
• not specified (5 variants)
• Autosomal recessive retinitis pigmentosa (3 variants)
• Rod-cone dystrophy (1 variants)
• Leber congenital amaurosis (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PDE6B-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			2
splice region						0
non coding	8	10	53	55	14	140
Total	8	11	54	55	14

Highest pathogenic variant AF is 0.0000525

Variants in PDE6B-AS1

This is a list of pathogenic ClinVar variants found in the PDE6B-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
4-653714-G-C			Benign (Jan 19, 2019)
4-653717-A-G			Benign (Nov 05, 2018)
4-653813-G-A			Benign (Jan 19, 2019)
4-653838-G-C			Likely benign (Dec 07, 2021)
4-653838-GC-G			Benign (May 31, 2023)
4-653839-C-A			Likely benign (Jul 19, 2022)
4-653858-C-T			Likely benign (Sep 25, 2022)
4-653863-G-T			Uncertain significance (Apr 04, 2022)
4-653865-C-G			Uncertain significance (May 25, 2022)
4-653866-G-A		Retinal dystrophy • PDE6B-related disorder	Benign/Likely benign (Jan 18, 2024)
4-653866-G-T			Likely benign (Apr 29, 2023)
4-653879-T-A		Retinitis pigmentosa • Congenital stationary night blindness autosomal dominant 2 • Retinitis pigmentosa 40 • Retinal dystrophy	Conflicting classifications of pathogenicity (Jun 17, 2021)
4-653892-C-T			Uncertain significance (Mar 19, 2022)
4-653893-G-A			Likely benign (Nov 20, 2023)
4-653894-G-C			Uncertain significance (Aug 10, 2023)
4-653894-G-T			Uncertain significance (Mar 27, 2020)
4-653895-AC-A			Pathogenic (Sep 10, 2021)
4-653898-T-C		Inborn genetic diseases	Uncertain significance (Aug 22, 2023)
4-653899-C-T		PDE6B-related disorder	Likely benign (Mar 02, 2022)
4-653900-G-A			Uncertain significance (Oct 30, 2023)
4-653904-G-C			Uncertain significance (Nov 14, 2023)
4-653906-C-CA			Pathogenic (Feb 02, 2020)
4-653909-T-G		Inborn genetic diseases	Uncertain significance (Jun 19, 2024)
4-653912-C-A		Congenital stationary night blindness autosomal dominant 2	Pathogenic (Mar 01, 2007)
4-653914-C-G		Retinal dystrophy	Likely pathogenic (Sep 27, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP