PPP3CB-AS1

PPP3CB antisense RNA 1 (head to head), the group of Antisense RNAs

Basic information

Region (hg38): 10:73495297-73520070

Links

ENSG00000221817 ∙ NCBI:101929145 ∙ ∙ HGNC:50750 ∙ ∙ ∙ 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 PPP3CB-AS1 gene.

• Inborn genetic diseases (31 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PPP3CB-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)			1			1
splice region						0
non coding			28	3		31
Total	0	0	29	3	0

Variants in PPP3CB-AS1

This is a list of pathogenic ClinVar variants found in the PPP3CB-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
10-73495826-C-T		not specified	Uncertain significance (May 10, 2023)
10-73495874-G-C		not specified	Uncertain significance (Nov 10, 2024)
10-73495883-C-A		not specified	Uncertain significance (Dec 04, 2024)
10-73498691-G-C		not specified	Uncertain significance (May 31, 2023)
10-73498705-C-T		not specified	Likely benign (Oct 31, 2024)
10-73498804-C-T		not specified	Uncertain significance (Jun 03, 2022)
10-73498808-A-G		not specified	Uncertain significance (Mar 31, 2024)
10-73498853-G-T		not specified	Uncertain significance (Oct 20, 2023)
10-73498943-C-T		not specified	Uncertain significance (Nov 21, 2022)
10-73498952-C-T		not specified	Uncertain significance (Apr 26, 2023)
10-73498953-C-A		not specified	Uncertain significance (Oct 07, 2024)
10-73498967-G-A		not specified	Uncertain significance (Apr 25, 2023)
10-73499080-C-T		not specified	Uncertain significance (Sep 06, 2022)
10-73499081-G-A		not specified	Uncertain significance (Nov 12, 2024)
10-73499129-C-T		not specified	Uncertain significance (Oct 21, 2024)
10-73499138-T-C		not specified	Uncertain significance (Jun 01, 2023)
10-73500658-G-A		not specified	Uncertain significance (Jan 26, 2022)
10-73500741-C-T		not specified	Uncertain significance (Mar 28, 2024)
10-73500760-G-C		not specified	Uncertain significance (Mar 01, 2023)
10-73500795-C-T		not specified	Uncertain significance (Oct 03, 2024)
10-73500799-G-A		USP54-related disorder	Likely benign (May 23, 2022)
10-73500805-C-T		not specified	Uncertain significance (Jun 18, 2024)
10-73504852-A-T		not specified	Uncertain significance (May 23, 2024)
10-73504855-T-C		not specified	Uncertain significance (Sep 01, 2021)
10-73504869-G-A		not specified	Uncertain significance (Dec 22, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP