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.

• Aortic aneurysm, familial thoracic 8 (130 variants)
• not provided (77 variants)
• Familial thoracic aortic aneurysm and aortic dissection (73 variants)
• not specified (18 variants)
• Inborn genetic diseases (8 variants)
• Connective tissue disorder (6 variants)
• PRKG1-related condition (1 variants)
• Cardiovascular phenotype (1 variants)

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			95	115	20	230
Total	0	0	95	115	20

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 (May 22, 2023)
10-52251573-T-C		Aortic aneurysm, familial thoracic 8 • not specified • Familial thoracic aortic aneurysm and aortic dissection	Benign (Jan 29, 2024)
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 (Jun 12, 2022)
10-52251585-G-A		Aortic aneurysm, familial thoracic 8 • Familial thoracic aortic aneurysm and aortic dissection • PRKG1-related disorder	Likely benign (Oct 12, 2023)
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		Aortic aneurysm, familial thoracic 8 • not specified • Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Dec 10, 2023)
10-52251595-G-A		Aortic aneurysm, familial thoracic 8	Uncertain significance (Jan 16, 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 (May 13, 2024)
10-52251607-C-T		Aortic aneurysm, familial thoracic 8 • Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Oct 01, 2023)
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)
10-52251632-C-T		PRKG1-related disorder	Uncertain significance (Oct 12, 2022)
10-52251634-C-G		Aortic aneurysm, familial thoracic 8	Uncertain significance (Jul 13, 2023)
10-52251636-T-A		Aortic aneurysm, familial thoracic 8	Likely benign (Dec 10, 2022)
10-52251637-G-A			Uncertain significance (Sep 07, 2017)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP