PRKG1-AS1

PRKG1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 10:52167104-52315122

Links

ENSG00000236671 ∙ NCBI:100506939 ∙ ∙ HGNC:45029 ∙ ∙ ∙ 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 PRKG1-AS1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRKG1-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			102	131	16	249
Total	0	0	102	131	16

Variants in PRKG1-AS1

This is a list of pathogenic ClinVar variants found in the PRKG1-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
10-52184748-T-C			Benign (Sep 01, 2022)
10-52251362-G-A			Likely benign (Oct 05, 2018)
10-52251550-T-C		Aortic aneurysm, familial thoracic 8	Likely benign (Oct 07, 2021)
10-52251552-T-TC		Aortic aneurysm, familial thoracic 8	Likely benign (Mar 10, 2023)
10-52251558-C-A		Aortic aneurysm, familial thoracic 8	Likely benign (Apr 24, 2024)
10-52251573-T-C		Aortic aneurysm, familial thoracic 8 • not specified • Familial thoracic aortic aneurysm and aortic dissection	Benign (Jan 29, 2025)
10-52251576-A-C		Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jan 14, 2023)
10-52251578-C-T		Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Sep 26, 2022)
10-52251579-T-C		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Nov 28, 2021)
10-52251582-A-C		Aortic aneurysm, familial thoracic 8	Uncertain significance (Jul 17, 2023)
10-52251584-C-T		Familial thoracic aortic aneurysm and aortic dissection • Aortic aneurysm, familial thoracic 8	Uncertain significance (Jan 19, 2025)
10-52251585-G-A		Familial thoracic aortic aneurysm and aortic dissection • PRKG1-related disorder • Aortic aneurysm, familial thoracic 8	Likely benign (Jan 27, 2025)
10-52251585-G-T		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Oct 22, 2024)
10-52251587-C-A		Aortic aneurysm, familial thoracic 8	Uncertain significance (Jun 26, 2022)
10-52251592-T-C		Aortic aneurysm, familial thoracic 8	Uncertain significance (Feb 21, 2023)
10-52251594-C-T		not specified • Familial thoracic aortic aneurysm and aortic dissection • Aortic aneurysm, familial thoracic 8	Likely benign (Jun 30, 2024)
10-52251595-G-A		Aortic aneurysm, familial thoracic 8	Uncertain significance (Aug 12, 2024)
10-52251595-G-C		Aortic aneurysm, familial thoracic 8	Uncertain significance (Jan 08, 2023)
10-52251599-A-G		Aortic aneurysm, familial thoracic 8 • Familial thoracic aortic aneurysm and aortic dissection • not specified	Uncertain significance (Jul 08, 2024)
10-52251603-G-C		Aortic aneurysm, familial thoracic 8	Likely benign (Feb 18, 2024)
10-52251607-C-T		Aortic aneurysm, familial thoracic 8 • Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Oct 01, 2023)
10-52251612-T-G		Aortic aneurysm, familial thoracic 8	Likely benign (Aug 28, 2024)
10-52251615-T-C		Aortic aneurysm, familial thoracic 8	Likely benign (Feb 26, 2023)
10-52251621-C-T		Aortic aneurysm, familial thoracic 8	Likely benign (Aug 20, 2020)
10-52251622-A-G		Aortic aneurysm, familial thoracic 8	Uncertain significance (May 21, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP