PRKG2-AS1

PRKG2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 4:81164922-81193395

Links

ENSG00000251059 ∙ NCBI:101928942 ∙ ∙ HGNC:40478 ∙ ∙ ∙ 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 PRKG2-AS1 gene.

• Inborn genetic diseases (5 variants)
• Acromesomelic dysplasia 4 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRKG2-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	1		5			6
Total	1	0	5	0	0

Variants in PRKG2-AS1

This is a list of pathogenic ClinVar variants found in the PRKG2-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
4-81167175-C-A		Inborn genetic diseases	Uncertain significance (Jun 05, 2023)
4-81167191-T-C		PRKG2-related disorder	Likely benign (Oct 28, 2019)
4-81167209-C-A		Inborn genetic diseases	Uncertain significance (Dec 16, 2023)
4-81169663-C-T		Acromesomelic dysplasia 4	Uncertain significance (Dec 19, 2024)
4-81169675-T-A		Inborn genetic diseases	Uncertain significance (Jan 23, 2023)
4-81171716-A-G		PRKG2-related disorder	Benign (Oct 30, 2019)
4-81171737-C-T		PRKG2-related disorder	Likely benign (Apr 29, 2019)
4-81171781-C-G		Inborn genetic diseases	Uncertain significance (Oct 17, 2023)
4-81171813-C-T		PRKG2-related disorder	Benign (Oct 17, 2019)
4-81174810-T-C		Inborn genetic diseases	Uncertain significance (Jul 08, 2022)
4-81174871-T-C		Inborn genetic diseases	Uncertain significance (Sep 16, 2021)
4-81174881-C-T		PRKG2-related disorder	Likely benign (Dec 17, 2019)
4-81174889-T-C		Inborn genetic diseases	Uncertain significance (Dec 03, 2024)
4-81174889-T-G		Inborn genetic diseases	Uncertain significance (Nov 09, 2021)
4-81174929-A-AT		Acromesomelic dysplasia 4	Pathogenic (Jan 18, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP