ABCA9-AS1

ABCA9 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 17:68944531-69042784

Links

ENSG00000231749 ∙ ∙ ∙ HGNC:39983 ∙ ∙ ∙ 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 ABCA9-AS1 gene.

• Inborn genetic diseases (59 variants)
• not provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ABCA9-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			53	11		64
Total	0	0	53	11	0

Variants in ABCA9-AS1

This is a list of pathogenic ClinVar variants found in the ABCA9-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
17-68975935-G-A		not specified	Uncertain significance (Aug 19, 2024)
17-68975945-C-A		not specified	Uncertain significance (Jan 29, 2024)
17-68975950-C-T		not specified	Uncertain significance (Jul 27, 2024)
17-68975964-T-C		not specified	Uncertain significance (Aug 02, 2022)
17-68975977-C-T		not specified	Uncertain significance (Sep 02, 2024)
17-68976181-C-T		not specified	Likely benign (Dec 28, 2022)
17-68982582-G-T		not specified	Uncertain significance (Feb 12, 2024)
17-68982597-C-T		not specified	Uncertain significance (Apr 12, 2023)
17-68982617-C-T			Likely benign (Oct 01, 2022)
17-68982621-T-C		not specified	Uncertain significance (May 24, 2024)
17-68983715-T-A		not specified	Uncertain significance (Nov 21, 2024)
17-68983761-G-C		not specified	Uncertain significance (Nov 22, 2023)
17-68983765-C-A		not specified	Uncertain significance (Nov 08, 2024)
17-68983782-T-C		not specified	Uncertain significance (Aug 01, 2024)
17-68983797-G-T		not specified	Uncertain significance (Oct 12, 2021)
17-68983820-C-G		not specified	Uncertain significance (Dec 20, 2021)
17-68984074-A-G		not specified	Uncertain significance (Oct 29, 2024)
17-68984081-C-G		not specified	Uncertain significance (Mar 30, 2022)
17-68984086-C-T		not specified	Uncertain significance (Nov 30, 2022)
17-68984122-G-A		not specified	Uncertain significance (Dec 09, 2023)
17-68984165-G-A		not specified	Uncertain significance (Mar 01, 2023)
17-68984891-T-G		not specified	Uncertain significance (Mar 29, 2022)
17-68985093-T-C		not specified	Uncertain significance (Oct 27, 2021)
17-68986201-C-T		not specified	Uncertain significance (May 05, 2023)
17-68989047-T-C		not specified	Uncertain significance (Mar 16, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP