COPB2-DT

COPB2 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 3:139389705-139782699

Links

ENSG00000248932 ∙ NCBI:100507291 ∙ ∙ HGNC:55579 ∙ ∙ ∙ 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 COPB2-DT gene.

• not provided (85 variants)
• Inborn genetic diseases (22 variants)
• Leber congenital amaurosis (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the COPB2-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			72	26	6	104
Total	0	0	72	26	6

Variants in COPB2-DT

This is a list of pathogenic ClinVar variants found in the COPB2-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
3-139462122-C-T		not specified	Uncertain significance (Jul 14, 2021)
3-139462147-C-T		not specified	Uncertain significance (Jan 03, 2024)
3-139462188-C-T		not specified	Uncertain significance (Jun 09, 2022)
3-139462245-G-A		not specified	Uncertain significance (Feb 16, 2023)
3-139462257-C-T		not specified	Likely benign (Oct 22, 2021)
3-139462272-C-T		not specified	Uncertain significance (Feb 28, 2024)
3-139462287-A-G		not specified	Uncertain significance (Aug 17, 2021)
3-139476395-T-C		not specified	Uncertain significance (Mar 15, 2024)
3-139476414-T-G		not specified	Uncertain significance (Nov 18, 2022)
3-139476437-G-A		not specified	Uncertain significance (Jan 31, 2024)
3-139476448-G-C		not specified	Uncertain significance (May 17, 2023)
3-139517629-A-T			Uncertain significance (Dec 11, 2023)
3-139517634-A-T			Uncertain significance (Mar 11, 2022)
3-139517659-C-A		not specified	Uncertain significance (Jan 30, 2024)
3-139517664-C-G			Uncertain significance (Jan 11, 2024)
3-139517698-G-A			Likely benign (Nov 01, 2022)
3-139518401-G-C			Likely benign (Jan 06, 2024)
3-139518416-C-A			Uncertain significance (Aug 28, 2023)
3-139518416-C-T			Uncertain significance (Jan 26, 2024)
3-139518422-A-G		not specified	Uncertain significance (Jan 20, 2024)
3-139518424-G-C			Uncertain significance (Feb 27, 2022)
3-139518430-C-T			Likely benign (Nov 28, 2022)
3-139518431-T-C		not specified	Uncertain significance (Sep 19, 2023)
3-139518437-C-A			Uncertain significance (Oct 27, 2022)
3-139518442-G-A			Likely benign (Dec 11, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP