EBF3-AS1

EBF3 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 10:129857638-129867384

Links

ENSG00000287997 ∙ NCBI:105378558 ∙ ∙ HGNC:56218 ∙ ∙ ∙ 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 EBF3-AS1 gene.

• not provided (8 variants)
• Inborn genetic diseases (4 variants)
• Hypotonia, ataxia, and delayed development syndrome (3 variants)
• Intellectual disability (1 variants)
• See cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EBF3-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	3	7	4		15
Total	1	3	7	4	0

Variants in EBF3-AS1

This is a list of pathogenic ClinVar variants found in the EBF3-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
10-129867142-G-A		Intellectual disability • EBF3-related disorder	Likely benign (Nov 18, 2021)
10-129867142-G-C			Likely benign (May 01, 2023)
10-129867148-G-A			Uncertain significance (Jul 08, 2020)
10-129867167-C-A			Uncertain significance (Nov 11, 2024)
10-129867197-A-T		Inborn genetic diseases	Likely pathogenic (Jun 15, 2023)
10-129867198-G-A			Uncertain significance (Dec 02, 2022)
10-129867201-T-TCACTTCGA		See cases	Likely pathogenic (Jun 22, 2021)
10-129867211-G-A		EBF3-related disorder	Likely benign (May 23, 2024)
10-129867213-C-T		Hypotonia, ataxia, and delayed development syndrome	Uncertain significance (Jun 26, 2023)
10-129867214-G-A		EBF3-related disorder	Likely benign (Mar 20, 2019)
10-129867219-G-A			Uncertain significance (Feb 16, 2023)
10-129867225-G-A		Inborn genetic diseases	Uncertain significance (Jun 21, 2022)
10-129867230-G-A		Hypotonia, ataxia, and delayed development syndrome • Inborn genetic diseases	Likely benign (Jun 29, 2023)
10-129867232-C-T			Likely benign (May 01, 2023)
10-129867232-C-CG		Hypotonia, ataxia, and delayed development syndrome	Likely pathogenic (Aug 22, 2022)
10-129867233-G-A		Hypotonia, ataxia, and delayed development syndrome	Uncertain significance (Jul 01, 2022)
10-129867246-G-A		Hypotonia, ataxia, and delayed development syndrome • Inborn genetic diseases	Pathogenic (Jun 17, 2023)
10-129867255-G-A			Uncertain significance (Oct 18, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP