CEBPB-AS1

CEBPB antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 20:50184598-50192039

Links

ENSG00000277449 ∙ NCBI:101927559 ∙ ∙ HGNC:51226 ∙ ∙ ∙ 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 CEBPB-AS1 gene.

• Inborn genetic diseases (5 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CEBPB-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			5	1		6
Total	0	0	5	1	0

Variants in CEBPB-AS1

This is a list of pathogenic ClinVar variants found in the CEBPB-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
20-50191076-C-T		not specified	Uncertain significance (Dec 15, 2023)
20-50191078-G-A			Likely benign (Jun 12, 2018)
20-50191148-G-A		not specified	Uncertain significance (Oct 10, 2023)
20-50191179-C-T		not specified	Uncertain significance (Oct 20, 2021)
20-50191192-A-C		not specified	Uncertain significance (Jul 20, 2021)
20-50191254-A-C		not specified	Uncertain significance (Nov 11, 2024)
20-50191291-G-C		not specified	Uncertain significance (Mar 13, 2023)
20-50191308-C-G		not specified	Uncertain significance (May 23, 2024)
20-50191317-A-C		not specified	Uncertain significance (Jan 21, 2025)
20-50191350-C-A		not specified	Uncertain significance (Aug 04, 2023)
20-50191405-C-A		not specified	Uncertain significance (Jul 09, 2024)
20-50191406-G-A		not specified	Uncertain significance (Nov 27, 2023)
20-50191407-A-G		not specified	Uncertain significance (Feb 15, 2023)
20-50191472-G-C		not specified	Uncertain significance (Jun 03, 2024)
20-50191526-C-G		not specified	Uncertain significance (Sep 15, 2021)
20-50191538-C-T		not specified	Uncertain significance (Jun 07, 2024)
20-50191539-C-T		not specified	Uncertain significance (Dec 28, 2022)
20-50191611-C-G		not specified	Uncertain significance (Oct 22, 2021)
20-50191704-T-G		not specified	Uncertain significance (Jan 02, 2025)
20-50191755-C-T		not specified	Uncertain significance (Jul 19, 2023)
20-50191782-C-T		not specified	Uncertain significance (May 31, 2023)
20-50191785-G-A		not specified	Uncertain significance (Mar 30, 2024)
20-50191790-G-A		not specified	Uncertain significance (Nov 29, 2024)
20-50191794-C-G		not specified	Uncertain significance (Nov 10, 2022)
20-50191847-G-A		not specified	Uncertain significance (Oct 25, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP