PPP1R15B-AS1

PPP1R15B and PIK3C2B antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 1:204377258-204441465

Links

ENSG00000226330 ∙ ∙ ∙ HGNC:55838 ∙ ∙ ∙ 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 PPP1R15B-AS1 gene.

• not provided (95 variants)
• Inborn genetic diseases (48 variants)
• not specified (8 variants)
• Microcephaly, short stature, and impaired glucose metabolism 2 (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PPP1R15B-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	1	91	32	13	138
Total	1	1	91	32	13

Variants in PPP1R15B-AS1

This is a list of pathogenic ClinVar variants found in the PPP1R15B-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
1-204406097-A-G			Uncertain significance (Nov 02, 2022)
1-204406100-G-T		Inborn genetic diseases	Uncertain significance (Dec 21, 2022)
1-204406111-T-G			Uncertain significance (Jul 19, 2022)
1-204406134-C-G		Inborn genetic diseases	Uncertain significance (Sep 14, 2022)
1-204406236-T-C			Likely benign (Nov 28, 2022)
1-204406237-G-A		Inborn genetic diseases	Uncertain significance (Feb 24, 2024)
1-204406251-T-C			Likely benign (Nov 13, 2024)
1-204406257-T-A		Inborn genetic diseases	Uncertain significance (Oct 24, 2024)
1-204406261-C-A			Uncertain significance (Jun 29, 2023)
1-204406261-C-T			Conflicting classifications of pathogenicity (Mar 06, 2024)
1-204406262-G-A		Microcephaly, short stature, and impaired glucose metabolism 2	Conflicting classifications of pathogenicity (Aug 01, 2024)
1-204406265-C-T			Uncertain significance (Apr 02, 2024)
1-204406274-C-T		Inborn genetic diseases	Uncertain significance (Apr 15, 2024)
1-204406281-A-G			Likely benign (Aug 12, 2024)
1-204409478-G-T			Likely benign (Jan 09, 2025)
1-204409480-C-T			Likely benign (Apr 16, 2024)
1-204409483-G-A			Likely benign (Oct 21, 2022)
1-204409494-T-C		Inborn genetic diseases	Uncertain significance (Nov 10, 2024)
1-204409499-C-G		Inborn genetic diseases	Uncertain significance (Mar 15, 2024)
1-204409526-G-C		not specified	Benign (Jan 09, 2025)
1-204409533-C-T			Uncertain significance (Nov 27, 2023)
1-204409534-G-A			Likely benign (May 10, 2024)
1-204409544-A-G		Inborn genetic diseases	Uncertain significance (Mar 20, 2024)
1-204409546-C-T			Likely benign (Aug 02, 2023)
1-204409576-C-T			Likely benign (Nov 27, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP