ZBTB20-AS1

ZBTB20 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 3:114351771-114388978

Links

ENSG00000241560 ∙ NCBI:100131117 ∙ ∙ HGNC:40640 ∙ ∙ ∙ 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 ZBTB20-AS1 gene.

• not provided (23 variants)
• Inborn genetic diseases (5 variants)
• not specified (2 variants)
• Primrose syndrome (1 variants)
• Intellectual disability (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZBTB20-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	13	11	3	28
Total	0	1	13	11	3

Variants in ZBTB20-AS1

This is a list of pathogenic ClinVar variants found in the ZBTB20-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
3-114351805-G-A			Likely benign (Dec 21, 2023)
3-114351815-T-C			Uncertain significance (Jan 22, 2024)
3-114351816-T-C			Uncertain significance (Jun 13, 2022)
3-114351839-C-T		Inborn genetic diseases	Conflicting classifications of pathogenicity (Dec 18, 2023)
3-114351847-G-A			Likely benign (Jul 18, 2018)
3-114351881-GC-AA			Uncertain significance (Jul 30, 2023)
3-114351889-T-A			Likely benign (Apr 28, 2022)
3-114380052-C-A			Benign (May 21, 2021)
3-114380200-C-T			Likely benign (Dec 28, 2023)
3-114380201-T-C			Likely benign (May 19, 2022)
3-114380204-G-A			Likely benign (Oct 05, 2023)
3-114380227-C-G		not specified	Likely benign (Apr 02, 2020)
3-114380228-C-T		ZBTB20-related disorder	Likely benign (Nov 28, 2023)
3-114380229-C-T		Inborn genetic diseases	Conflicting classifications of pathogenicity (Jan 07, 2024)
3-114380230-G-A			Likely benign (Feb 01, 2023)
3-114380235-G-A			Uncertain significance (Nov 03, 2021)
3-114380238-C-T			Likely benign (Aug 10, 2023)
3-114380244-A-G			Likely benign (Jan 18, 2024)
3-114380260-T-A			Likely benign (Jan 08, 2024)
3-114380261-G-T			Uncertain significance (Oct 18, 2019)
3-114380262-T-C		not specified • ZBTB20-related disorder	Benign (Jan 21, 2024)
3-114380264-G-C		Intellectual disability	Conflicting classifications of pathogenicity (Sep 10, 2020)
3-114380266-G-A		ZBTB20-related disorder	Benign/Likely benign (Feb 01, 2024)
3-114380267-T-A			Uncertain significance (Jul 10, 2022)
3-114380278-T-A			Likely benign (Sep 28, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP