PRKAR1B-AS1

PRKAR1B antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 7:601634-608502

Links

ENSG00000237181 ∙ NCBI:101926963 ∙ ∙ HGNC:40470 ∙ ∙ ∙ 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 PRKAR1B-AS1 gene.

• not provided (3 variants)
• Marbach-Schaaf neurodevelopmental syndrome (1 variants)
• Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRKAR1B-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		4			5
Total	1	0	4	0	0

Variants in PRKAR1B-AS1

This is a list of pathogenic ClinVar variants found in the PRKAR1B-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
7-602546-C-T		not specified	Likely benign (May 13, 2024)
7-602620-G-A		not specified	Likely benign (Feb 16, 2025)
7-606188-C-A			Uncertain significance (Nov 01, 2023)
7-606205-T-C			Uncertain significance (Feb 01, 2017)
7-606214-G-A		PRKAR1B-related disorder	Likely benign (Jul 10, 2019)
7-606220-G-C			Uncertain significance (Apr 25, 2023)
7-606220-G-T			Uncertain significance (Aug 17, 2022)
7-606222-A-C			Uncertain significance (Dec 12, 2023)
7-606229-T-G		not specified	Benign (Feb 16, 2025)
7-606231-C-T			Uncertain significance (Oct 22, 2023)
7-607392-TT-AA		Marbach-Schaaf neurodevelopmental syndrome	Pathogenic (Dec 23, 2021)
7-607415-C-G			Uncertain significance (Feb 20, 2024)
7-607415-C-T		not specified	Uncertain significance (Sep 14, 2022)
7-607418-T-C			Uncertain significance (Nov 02, 2023)
7-607423-G-A			Uncertain significance (May 10, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP