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 (Jul 14, 2022)
1-204406251-T-C			Likely benign (Feb 28, 2023)
1-204406261-C-A			Uncertain significance (Jun 29, 2023)
1-204406261-C-T			Conflicting classifications of pathogenicity (Nov 22, 2023)
1-204406262-G-A		Microcephaly, short stature, and impaired glucose metabolism 2	Pathogenic (May 22, 2022)
1-204406274-C-T		Inborn genetic diseases	Uncertain significance (Apr 15, 2024)
1-204406281-A-G			Likely benign (Nov 08, 2022)
1-204409480-C-T			Likely benign (Jul 01, 2023)
1-204409483-G-A			Likely benign (Oct 21, 2022)
1-204409499-C-G		Inborn genetic diseases	Uncertain significance (Mar 15, 2024)
1-204409526-G-C		not specified	Benign (Jan 23, 2024)
1-204409533-C-T			Uncertain significance (Nov 27, 2023)
1-204409544-A-G		Inborn genetic diseases	Uncertain significance (Dec 15, 2023)
1-204409546-C-T			Likely benign (Aug 02, 2023)
1-204409576-C-T			Likely benign (Nov 27, 2023)
1-204409583-T-A		Inborn genetic diseases	Uncertain significance (Nov 18, 2023)
1-204409620-T-C			Uncertain significance (May 29, 2023)
1-204409622-G-A			Uncertain significance (Nov 27, 2023)
1-204409645-CTTT-C			Uncertain significance (Nov 07, 2022)
1-204409647-T-C			Benign (Jan 29, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP