CEBPA-DT

CEBPA divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 19:33301754-33305254

Previous symbols: [ "CEBPA-AS1" ]

Links

ENSG00000267296 ∙ NCBI:80054 ∙ ∙ HGNC:25710 ∙ ∙ ∙ 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 CEBPA-DT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CEBPA-DT 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						0
Total	0	0	0	0	0

Variants in CEBPA-DT

This is a list of pathogenic ClinVar variants found in the CEBPA-DT region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-33301755-C-T		Acute myeloid leukemia • Inborn genetic diseases	Likely benign (Nov 18, 2024)
19-33301757-G-A		Acute myeloid leukemia	Likely benign (Feb 25, 2022)
19-33301759-T-TC			Likely pathogenic (Nov 08, 2016)
19-33301760-G-T		Acute myeloid leukemia • Inborn genetic diseases	Conflicting classifications of pathogenicity (Jan 09, 2025)
19-33301761-C-A		Acute myeloid leukemia	Uncertain significance (Mar 19, 2019)
19-33301761-C-T		Acute myeloid leukemia	Uncertain significance (Dec 31, 2022)
19-33301762-A-G		Acute myeloid leukemia	Uncertain significance (Aug 31, 2022)
19-33301763-T-C		Acute myeloid leukemia	Uncertain significance (Nov 22, 2023)
19-33301763-T-G		Acute myeloid leukemia	Uncertain significance (Mar 07, 2022)
19-33301766-T-C		Acute myeloid leukemia	Uncertain significance (Nov 06, 2024)
19-33301767-G-T		Acute myeloid leukemia	Likely benign (Feb 02, 2021)
19-33301769-T-C		Acute myeloid leukemia • Inborn genetic diseases	Conflicting classifications of pathogenicity (Dec 14, 2024)
19-33301770-C-T		Acute myeloid leukemia • Inborn genetic diseases	Likely benign (Feb 21, 2025)
19-33301771-T-A		Inborn genetic diseases	Uncertain significance (Feb 25, 2025)
19-33301773-G-A		Acute myeloid leukemia	Likely benign (Sep 05, 2023)
19-33301773-G-T		Inborn genetic diseases	Likely benign (Dec 12, 2024)
19-33301774-C-A		Acute myeloid leukemia	Uncertain significance (Oct 05, 2022)
19-33301775-C-T		Acute myeloid leukemia	Uncertain significance (Mar 20, 2023)
19-33301776-G-T		Acute myeloid leukemia	Uncertain significance (Sep 18, 2021)
19-33301779-G-A		Acute myeloid leukemia • Inborn genetic diseases	Likely benign (Sep 13, 2024)
19-33301780-T-C		Acute myeloid leukemia	Uncertain significance (Sep 15, 2021)
19-33301780-T-G		Acute myeloid leukemia	Uncertain significance (Oct 18, 2024)
19-33301781-G-A		Acute myeloid leukemia	Uncertain significance (Oct 04, 2022)
19-33301781-G-C		Acute myeloid leukemia	Uncertain significance (Dec 14, 2020)
19-33301782-C-A		Acute myeloid leukemia	Likely benign (Feb 20, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP