BACE1-AS

BACE1 antisense RNA, the group of Antisense RNAs

Basic information

Region (hg38): 11:117288453-117293494

Previous symbols: [ "BACE1AS" ]

Links

ENSG00000278768 ∙ NCBI:100379571 ∙ OMIM:614263 ∙ HGNC:37125 ∙ ∙ ∙ 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 BACE1-AS gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BACE1-AS 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			15			15
Total	0	0	15	0	0

Variants in BACE1-AS

This is a list of pathogenic ClinVar variants found in the BACE1-AS region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
11-117289601-C-G		not specified	Uncertain significance (Jul 05, 2024)
11-117289613-G-A		not specified	Uncertain significance (Oct 01, 2024)
11-117289696-G-T		not specified	Uncertain significance (Oct 05, 2023)
11-117289699-A-G		not specified	Uncertain significance (Nov 21, 2023)
11-117289706-T-C		not specified	Uncertain significance (Aug 02, 2023)
11-117289711-G-T		not specified	Uncertain significance (Aug 08, 2022)
11-117289712-T-C		not specified	Uncertain significance (Nov 14, 2023)
11-117289719-A-T		not specified	Uncertain significance (Dec 13, 2023)
11-117289762-G-A		not specified	Uncertain significance (Jun 29, 2023)
11-117289802-C-T		not specified	Uncertain significance (Jun 10, 2024)
11-117290526-G-A		not specified	Uncertain significance (May 24, 2023)
11-117290938-C-T		not specified	Uncertain significance (Oct 20, 2023)
11-117290998-G-C		not specified	Uncertain significance (Nov 24, 2024)
11-117291030-C-T		not specified	Uncertain significance (Mar 06, 2023)
11-117291048-G-A		not specified	Uncertain significance (Oct 12, 2024)
11-117291719-G-A		not specified	Uncertain significance (May 08, 2024)
11-117291725-T-C		not specified	Uncertain significance (May 24, 2024)
11-117291768-G-A		not specified	Uncertain significance (Jul 05, 2023)
11-117293066-C-A		not specified	Uncertain significance (Feb 27, 2023)
11-117293124-T-G		not specified	Uncertain significance (Jul 26, 2022)
11-117293130-C-T		not specified	Uncertain significance (Nov 09, 2023)
11-117293131-G-A		not specified	Uncertain significance (Jan 22, 2024)
11-117293158-T-C		not specified	Uncertain significance (Oct 06, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Mouse Genome Informatics

• Gene name: Gm16536