PDE6B-AS1

PDE6B antisense RNA 1, the group of Antisense RNAs

Basic information

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

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP