VLDLR-AS1

VLDLR antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 9:2301072-2622457

Links

ENSG00000236404 ∙ NCBI:401491 ∙ ∙ HGNC:49621 ∙ ∙ ∙ 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 VLDLR-AS1 gene.

• not provided (25 variants)
• Congenital cerebellar hypoplasia (20 variants)
• Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 (20 variants)
• not specified (11 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the VLDLR-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		1	18	20	7	46
Total	0	1	18	20	7

Variants in VLDLR-AS1

This is a list of pathogenic ClinVar variants found in the VLDLR-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
9-2621482-C-G			Benign (Jun 19, 2018)
9-2621559-G-A			Likely benign (Aug 25, 2018)
9-2621560-A-G			Likely benign (Aug 25, 2018)
9-2621564-G-A			Likely benign (Jun 14, 2018)
9-2621675-G-A			Likely benign (Oct 17, 2018)
9-2621798-C-T		Congenital cerebellar hypoplasia • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	Uncertain significance (Jan 13, 2018)
9-2621855-C-T		Congenital cerebellar hypoplasia • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	Uncertain significance (Jan 13, 2018)
9-2621884-T-TCCCTCCTCTCCCCTTGCCTC			Likely benign (May 01, 2023)
9-2621887-C-G		Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	Uncertain significance (Apr 27, 2017)
9-2621888-T-C		Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	Uncertain significance (Jan 13, 2018)
9-2621983-G-A		Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	Uncertain significance (Jan 13, 2018)
9-2622018-A-AG		Congenital cerebellar hypoplasia	Uncertain significance (Jun 14, 2016)
9-2622019-G-C		Congenital cerebellar hypoplasia • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	Conflicting classifications of pathogenicity (Jun 01, 2023)
9-2622036-C-G		Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	Uncertain significance (Jan 13, 2018)
9-2622068-T-C		Congenital cerebellar hypoplasia • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	Uncertain significance (Jan 13, 2018)
9-2622069-C-T		Congenital cerebellar hypoplasia • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	Uncertain significance (Jan 13, 2018)
9-2622077-C-G		Congenital cerebellar hypoplasia • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	Conflicting classifications of pathogenicity (Sep 26, 2018)
9-2622079-C-T		Congenital cerebellar hypoplasia • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	Conflicting classifications of pathogenicity (Jan 13, 2018)
9-2622091-C-G		Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	Uncertain significance (Apr 27, 2017)
9-2622121-A-G		Congenital cerebellar hypoplasia • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	Benign (Jun 19, 2018)
9-2622131-TGTC-T		Congenital cerebellar hypoplasia	Uncertain significance (Jun 14, 2016)
9-2622134-C-T		Congenital cerebellar hypoplasia • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	Benign (Jun 26, 2018)
9-2622142-G-C		Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	Uncertain significance (Jan 13, 2018)
9-2622146-ACGG-A		Congenital cerebellar hypoplasia	Conflicting classifications of pathogenicity (Jun 14, 2016)
9-2622146-ACGGCGG-A		not specified	Likely benign (Oct 13, 2017)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Pathway: LncRNA-mediated mechanisms of therapeutic resistance (Consensus)