LOXL1-AS1

LOXL1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 15:73898471-73928296

Links

ENSG00000261801 ∙ NCBI:100287616 ∙ OMIM:616800 ∙ HGNC:44169 ∙ ∙ ∙ 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 LOXL1-AS1 gene.

• Inborn genetic diseases (14 variants)
• Exfoliation syndrome, susceptibility to (2 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LOXL1-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
splice region						0
non coding			13	1	1	15
Total	0	0	14	1	1

Variants in LOXL1-AS1

This is a list of pathogenic ClinVar variants found in the LOXL1-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
15-73926926-A-G		not specified	Uncertain significance (Aug 14, 2023)
15-73926985-C-T		not specified	Uncertain significance (Oct 20, 2021)
15-73926986-G-A		not specified	Uncertain significance (Dec 16, 2022)
15-73927004-G-C		not specified	Uncertain significance (Aug 12, 2021)
15-73927042-C-G		not specified	Uncertain significance (Sep 27, 2021)
15-73927056-C-A		not specified	Uncertain significance (Jan 08, 2024)
15-73927071-G-T		not specified	Uncertain significance (Feb 05, 2024)
15-73927073-C-T		not specified	Uncertain significance (May 24, 2024)
15-73927110-C-T		LOXL1-related disorder	Likely benign (Mar 22, 2019)
15-73927140-C-A		not specified	Uncertain significance (Jan 30, 2024)
15-73927205-G-T		Exfoliation syndrome, susceptibility to	risk factor (May 01, 2009)
15-73927210-C-T		not specified	Uncertain significance (Jul 26, 2022)
15-73927215-C-T		LOXL1-related disorder	Benign (Jun 28, 2018)
15-73927241-G-A		Exfoliation syndrome, susceptibility to • LOXL1-related disorder	Benign; risk factor (Jun 27, 2019)
15-73927258-T-G		LOXL1-related disorder	Benign (Jan 24, 2020)
15-73927261-G-C			Likely benign (Jan 01, 2023)
15-73927265-C-T		LOXL1-related disorder	Benign (Sep 25, 2019)
15-73927364-C-A		not specified	Uncertain significance (Jun 29, 2023)
15-73927481-G-T		not specified	Uncertain significance (Mar 17, 2023)
15-73927541-C-T		not specified	Uncertain significance (Feb 07, 2023)
15-73927659-C-T		LOXL1-related disorder	Benign (Apr 25, 2019)
15-73927693-G-A		not specified	Uncertain significance (Jan 23, 2024)
15-73927693-G-C		not specified	Uncertain significance (Feb 22, 2023)
15-73927763-T-C		not specified	Uncertain significance (Apr 27, 2024)
15-73927771-C-T		not specified	Uncertain significance (Jul 20, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP