APOA1-AS

APOA1 antisense RNA, the group of Antisense RNAs

Basic information

Region (hg38): 11:116836117-116856210

Links

ENSG00000235910 ∙ NCBI:104326055 ∙ OMIM:620112 ∙ HGNC:40079 ∙ ∙ ∙ 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 APOA1-AS gene.

• not provided (101 variants)
• Cardiovascular phenotype (59 variants)
• Familial visceral amyloidosis, Ostertag type (21 variants)
• not specified (14 variants)
• Hypoalphalipoproteinemia, primary, 1 (14 variants)
• Inborn genetic diseases (8 variants)
• Hypoalphalipoproteinemia, primary, 2 (6 variants)
• Hypoalphalipoproteinemia, primary, 2, intermediate (4 variants)
• Familial visceral amyloidosis, Ostertag type;Hypoalphalipoproteinemia, primary, 2, intermediate;Hypoalphalipoproteinemia, primary, 2 (4 variants)
• Hypoalphalipoproteinemia, primary, 2;Hypoalphalipoproteinemia, primary, 2, intermediate;Familial visceral amyloidosis, Ostertag type (3 variants)
• Hypoalphalipoproteinemia, primary, 2, intermediate;Familial visceral amyloidosis, Ostertag type;Hypoalphalipoproteinemia, primary, 2 (2 variants)
• Familial visceral amyloidosis, Ostertag type;Hypoalphalipoproteinemia, primary, 2;Hypoalphalipoproteinemia, primary, 2, intermediate (2 variants)
• Apolipoprotein A-I deficiency (2 variants)
• Familial amyloid polyneuropathy, Iowa type (1 variants)
• APOLIPOPROTEIN A-I (NORWAY) (1 variants)
• Cardiomyopathy (1 variants)
• Amyloidosis, cardiac and cutaneous (1 variants)
• Hypoalphalipoproteinemia, primary, 2;Familial visceral amyloidosis, Ostertag type;Hypoalphalipoproteinemia, primary, 2, intermediate (1 variants)
• APOLIPOPROTEIN A-I (MUNSTER3B) (1 variants)
• APOLIPOPROTEIN A-I (BALTIMORE) (1 variants)
• APOLIPOPROTEIN A-I (MARBURG) (1 variants)
• Chronic kidney disease (1 variants)
• Hereditary spastic paraplegia 50 (1 variants)
• APOA1-related condition (1 variants)
• Tangier disease (1 variants)
• Familial High Density Lipoprotein Deficiency (1 variants)
• APOLIPOPROTEIN A-I (MUNSTER3C) (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the APOA1-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)			2	1		3
splice region						0
non coding	14	4	66	59	11	154
Total	14	4	68	60	11

Highest pathogenic variant AF is 0.00000657

Variants in APOA1-AS

This is a list of pathogenic ClinVar variants found in the APOA1-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
11-116836118-A-C			Pathogenic (Aug 20, 2023)
11-116836118-A-G		Cardiovascular phenotype	Uncertain significance (Jun 22, 2023)
11-116836120-C-T			Likely benign (Jul 20, 2022)
11-116836121-T-C			Uncertain significance (Mar 01, 2023)
11-116836123-C-G			Uncertain significance (Sep 05, 2023)
11-116836123-C-T			Likely benign (Oct 26, 2022)
11-116836124-T-C		Cardiovascular phenotype	Uncertain significance (Mar 07, 2023)
11-116836127-T-G		Cardiovascular phenotype	Uncertain significance (Jul 11, 2023)
11-116836129-C-A		Cardiovascular phenotype	Likely benign (Apr 19, 2022)
11-116836129-C-G		Familial visceral amyloidosis, Ostertag type;Hypoalphalipoproteinemia, primary, 2;Hypoalphalipoproteinemia, primary, 2, intermediate • Cardiovascular phenotype	Likely benign (Jan 24, 2024)
11-116836129-C-T			Likely benign (Jun 28, 2022)
11-116836132-C-A		Familial visceral amyloidosis, Ostertag type • Hypoalphalipoproteinemia, primary, 1 • Cardiovascular phenotype	Uncertain significance (May 29, 2023)
11-116836132-C-T		Cardiovascular phenotype	Likely benign (Aug 11, 2023)
11-116836134-C-A		Hypoalphalipoproteinemia, primary, 2, intermediate	Pathogenic (May 17, 2024)
11-116836134-C-T		APOLIPOPROTEIN A-I (NORWAY)	Pathogenic (Aug 25, 1984)
11-116836135-G-A		Cardiovascular phenotype	Likely benign (Aug 27, 2022)
11-116836135-G-C		Cardiovascular phenotype	Likely benign (May 06, 2023)
11-116836135-G-T			Uncertain significance (May 14, 2022)
11-116836141-C-G			Uncertain significance (Jun 12, 2023)
11-116836147-G-C		Cardiovascular phenotype	Likely benign (Jun 10, 2023)
11-116836152-C-T			Uncertain significance (Jul 11, 2022)
11-116836155-C-T			Uncertain significance (Jun 19, 2023)
11-116836157-T-C			Uncertain significance (Dec 18, 2020)
11-116836158-C-T		Familial visceral amyloidosis, Ostertag type • Familial High Density Lipoprotein Deficiency • Cardiovascular phenotype	Conflicting classifications of pathogenicity (Jan 08, 2024)
11-116836160-T-C			Uncertain significance (Aug 18, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP