AKAP13-AS1

AKAP13 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 15:85619623-85670948

Links

ENSG00000259367 ∙ ∙ ∙ HGNC:55975 ∙ ∙ ∙ 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 AKAP13-AS1 gene.

• Inborn genetic diseases (22 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AKAP13-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			20	4	2	26
Total	0	0	20	4	2

Variants in AKAP13-AS1

This is a list of pathogenic ClinVar variants found in the AKAP13-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
15-85620105-A-G			Likely benign (Jan 01, 2024)
15-85639374-A-G		not specified	Uncertain significance (Nov 03, 2022)
15-85639404-C-T		not specified	Uncertain significance (Mar 06, 2023)
15-85639408-G-A		not specified	Uncertain significance (Sep 01, 2021)
15-85639431-G-A		not specified	Uncertain significance (Sep 28, 2021)
15-85639447-C-T		not specified	Uncertain significance (Jun 07, 2024)
15-85645774-T-TG		AKAP13-related disorder	Likely benign (Apr 04, 2022)
15-85645831-C-G		not specified	Uncertain significance (Sep 14, 2022)
15-85645841-G-C		not specified	Uncertain significance (Sep 26, 2022)
15-85645859-A-G		not specified	Likely benign (Jun 17, 2022)
15-85645893-G-A		not specified	Uncertain significance (Oct 12, 2022)
15-85645905-A-T		not specified	Uncertain significance (Aug 13, 2021)
15-85645920-C-G		not specified	Uncertain significance (Jan 22, 2024)
15-85655507-A-G		not specified	Uncertain significance (Jul 30, 2023)
15-85655513-G-A		not specified	Uncertain significance (Feb 22, 2023)
15-85655524-C-T			Benign (Apr 16, 2018)
15-85655527-G-C		not specified	Uncertain significance (Feb 27, 2024)
15-85655556-G-A		not specified	Likely benign (Apr 28, 2023)
15-85655561-A-T		not specified	Likely benign (Dec 18, 2023)
15-85655564-C-G		not specified	Uncertain significance (Sep 27, 2022)
15-85655591-G-A		not specified	Uncertain significance (Jul 30, 2023)
15-85655604-G-A		not specified	Uncertain significance (May 15, 2023)
15-85655615-A-G			Benign (Feb 26, 2018)
15-85655636-G-A		not specified	Uncertain significance (Jun 07, 2024)
15-85655681-A-G		not specified	Uncertain significance (Feb 07, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP