VPS13A-AS1

VPS13A antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 9:77176594-77178201

Links

ENSG00000232998 ∙ NCBI:100286938 ∙ ∙ HGNC:44167 ∙ ∙ ∙ 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 VPS13A-AS1 gene.

• not provided (26 variants)
• Chorea-acanthocytosis (11 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the VPS13A-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	3	2	7	17	6	35
Total	3	2	7	17	6

Variants in VPS13A-AS1

This is a list of pathogenic ClinVar variants found in the VPS13A-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
9-77177103-C-G			Benign (Jul 17, 2018)
9-77177159-G-C			Benign (Jul 17, 2018)
9-77177270-T-TG			Likely benign (Jan 16, 2020)
9-77177290-T-C			Likely benign (Aug 03, 2020)
9-77177441-G-C		Chorea-acanthocytosis	Uncertain significance (Jan 13, 2018)
9-77177473-G-C		Chorea-acanthocytosis	Uncertain significance (Jan 12, 2018)
9-77177522-G-A		Chorea-acanthocytosis	Uncertain significance (Jan 13, 2018)
9-77177522-G-C		Chorea-acanthocytosis	Benign (Jul 17, 2018)
9-77177524-G-A		Chorea-acanthocytosis	Benign (Aug 14, 2018)
9-77177547-G-C		Chorea-acanthocytosis	Uncertain significance (Jan 13, 2018)
9-77177555-C-T		Chorea-acanthocytosis	Uncertain significance (Jan 12, 2018)
9-77177557-C-T		Chorea-acanthocytosis	Uncertain significance (Jan 13, 2018)
9-77177689-A-T		Chorea-acanthocytosis	Uncertain significance (Apr 06, 2018)
9-77177705-A-T		Chorea-acanthocytosis	Likely pathogenic (Feb 07, 2022)
9-77177713-C-T			Likely benign (Dec 06, 2023)
9-77177716-G-A			Likely benign (Apr 09, 2023)
9-77177718-C-A		Chorea-acanthocytosis	Likely pathogenic (Mar 15, 2021)
9-77177725-C-G			Likely benign (Feb 03, 2023)
9-77177728-G-A			Likely benign (Jan 01, 2024)
9-77177740-C-T			Likely benign (Aug 30, 2022)
9-77177746-C-T			Likely benign (Nov 21, 2021)
9-77177748-T-TG			Pathogenic (Mar 16, 2021)
9-77177767-C-T			Likely benign (May 08, 2023)
9-77177768-T-C			Likely benign (Dec 03, 2023)
9-77177775-C-CG			Pathogenic (Feb 09, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP