PRKAR2A-AS1

PRKAR2A antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 3:48847572-48897568

Links

ENSG00000224424 ∙ NCBI:100506637 ∙ ∙ HGNC:40471 ∙ ∙ ∙ 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 PRKAR2A-AS1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRKAR2A-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						0
Total	0	0	0	0	0

Variants in PRKAR2A-AS1

This is a list of pathogenic ClinVar variants found in the PRKAR2A-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
3-48856928-A-G		Carnitine acylcarnitine translocase deficiency	Uncertain significance (Jan 13, 2018)
3-48857000-C-G		Carnitine acylcarnitine translocase deficiency	Uncertain significance (Apr 27, 2017)
3-48857012-C-T		Carnitine acylcarnitine translocase deficiency	Benign (Jan 13, 2018)
3-48857132-TA-T		Carnitine acylcarnitine translocase deficiency	Uncertain significance (Jun 14, 2016)
3-48857132-T-TA		Carnitine acylcarnitine translocase deficiency	Uncertain significance (Jun 14, 2016)
3-48857234-C-A		Carnitine acylcarnitine translocase deficiency	Uncertain significance (Jan 12, 2018)
3-48857339-A-C		Carnitine acylcarnitine translocase deficiency	Uncertain significance (Jan 13, 2018)
3-48857351-G-A		Carnitine acylcarnitine translocase deficiency	Uncertain significance (Jan 13, 2018)
3-48857353-G-A		Carnitine acylcarnitine translocase deficiency	Benign (Jan 13, 2018)
3-48857399-G-A		Carnitine acylcarnitine translocase deficiency	Uncertain significance (Jan 13, 2018)
3-48857436-G-A		Carnitine acylcarnitine translocase deficiency	Likely benign (Jan 12, 2018)
3-48857475-A-G		Carnitine acylcarnitine translocase deficiency	Uncertain significance (Jan 12, 2018)
3-48857499-A-G		Carnitine acylcarnitine translocase deficiency	Uncertain significance (Jan 12, 2018)
3-48857595-C-T		Carnitine acylcarnitine translocase deficiency	Uncertain significance (Jun 14, 2016)
3-48857701-C-A		SLC25A20-related disorder	Likely benign (Jul 23, 2020)
3-48857710-T-C		Carnitine acylcarnitine translocase deficiency	Uncertain significance (Jul 06, 2022)
3-48857715-A-G		Carnitine acylcarnitine translocase deficiency	Likely benign (Sep 12, 2023)
3-48857717-T-C		Carnitine acylcarnitine translocase deficiency	Uncertain significance (Mar 10, 2023)
3-48857718-T-TG		Carnitine acylcarnitine translocase deficiency	Pathogenic (Feb 16, 2023)
3-48857721-G-C		Carnitine acylcarnitine translocase deficiency	Uncertain significance (Jul 23, 2022)
3-48857722-G-T		Carnitine acylcarnitine translocase deficiency • SLC25A20-related disorder	Conflicting classifications of pathogenicity (Oct 11, 2023)
3-48857734-A-G		Carnitine acylcarnitine translocase deficiency	Likely benign (Jul 10, 2023)
3-48857735-A-G		Carnitine acylcarnitine translocase deficiency	Uncertain significance (Jul 11, 2022)
3-48857748-C-T		Carnitine acylcarnitine translocase deficiency	Uncertain significance (Apr 09, 2022)
3-48857755-A-G		Carnitine acylcarnitine translocase deficiency	Likely benign (Mar 20, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP