GBX2-AS1

GBX2 and ASB18 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 2:236163968-236431663

Links

ENSG00000233611 ∙ ∙ ∙ HGNC:55714 ∙ ∙ ∙ 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 GBX2-AS1 gene.

• Inborn genetic diseases (38 variants)
• not specified (2 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GBX2-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			41		1	42
Total	0	0	41	0	1

Variants in GBX2-AS1

This is a list of pathogenic ClinVar variants found in the GBX2-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
2-236166032-G-T		not specified	Uncertain significance (Nov 01, 2021)
2-236166184-C-T			Benign (Jul 23, 2018)
2-236166192-C-T		not specified	Uncertain significance (Jan 16, 2024)
2-236166232-A-G		EBV-positive nodal T- and NK-cell lymphoma	Likely benign (-)
2-236166252-C-T		not specified	Uncertain significance (Jan 03, 2024)
2-236166255-C-A		not specified	Uncertain significance (Mar 19, 2024)
2-236166260-C-G		not specified	Uncertain significance (Oct 05, 2023)
2-236166276-C-T		not specified	Uncertain significance (Jan 19, 2024)
2-236167550-G-A		not specified	Uncertain significance (Apr 20, 2023)
2-236167565-C-T		not specified	Uncertain significance (May 08, 2024)
2-236167566-C-G		not specified	Uncertain significance (Jun 18, 2021)
2-236167568-C-A		not specified	Uncertain significance (Jun 10, 2022)
2-236167612-C-G			Benign (Jul 23, 2018)
2-236167643-C-A		not specified	Uncertain significance (Jan 10, 2023)
2-236167657-C-T		not specified	Uncertain significance (Jun 16, 2024)
2-236167678-C-T		not specified	Uncertain significance (May 17, 2023)
2-236167682-C-G		not specified	Uncertain significance (May 27, 2022)
2-236167724-A-G		not specified	Uncertain significance (Jun 17, 2022)
2-236167754-G-T		not specified	Uncertain significance (Dec 14, 2023)
2-236167808-A-G		not specified	Uncertain significance (Nov 09, 2023)
2-236167821-G-C		not specified	Uncertain significance (Aug 17, 2022)
2-236167959-A-G		not specified	Uncertain significance (Jun 10, 2022)
2-236194888-T-C		not specified	Uncertain significance (Jun 24, 2022)
2-236194973-T-C		not specified	Uncertain significance (Jul 20, 2021)
2-236194976-G-A		not specified	Uncertain significance (Feb 22, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP