CD2BP2-DT

CD2BP2 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 16:30354665-30363713

Links

ENSG00000260219 ∙ NCBI:101928707 ∙ ∙ HGNC:53029 ∙ ∙ ∙ 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 CD2BP2-DT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CD2BP2-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			43	1		44
Total	0	0	43	1	0

Variants in CD2BP2-DT

This is a list of pathogenic ClinVar variants found in the CD2BP2-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
16-30357951-T-C		not specified	Uncertain significance (Jan 22, 2025)
16-30357963-C-T		not specified	Uncertain significance (Jun 12, 2023)
16-30358009-G-A		not specified	Uncertain significance (Jan 11, 2023)
16-30358014-T-C		not specified	Uncertain significance (Feb 22, 2023)
16-30358015-C-T		not specified	Uncertain significance (Feb 06, 2024)
16-30358029-A-G		not specified	Uncertain significance (May 15, 2023)
16-30358032-G-A		not specified	Uncertain significance (Oct 26, 2022)
16-30358041-C-T		not specified	Uncertain significance (Feb 10, 2022)
16-30358042-G-A		not specified	Uncertain significance (Feb 07, 2025)
16-30358072-G-A		not specified	Uncertain significance (Aug 28, 2024)
16-30358087-T-C		not specified	Uncertain significance (Jun 12, 2023)
16-30358088-C-G		not specified	Uncertain significance (Dec 15, 2023)
16-30358146-C-A		not specified	Uncertain significance (Jul 29, 2023)
16-30358146-C-T		not specified	Likely benign (Jul 06, 2021)
16-30358147-G-A		not specified	Uncertain significance (Sep 16, 2021)
16-30358155-T-C		not specified	Uncertain significance (Apr 23, 2024)
16-30358156-C-T		not specified	Uncertain significance (Sep 04, 2024)
16-30358167-C-T		not specified	Uncertain significance (Jul 31, 2024)
16-30358168-G-A		not specified	Uncertain significance (Feb 05, 2024)
16-30358189-G-A		not specified	Uncertain significance (Aug 02, 2021)
16-30358194-T-C		not specified	Uncertain significance (Mar 08, 2025)
16-30358206-C-T		not specified	Uncertain significance (May 21, 2024)
16-30358207-G-A		not specified	Uncertain significance (Feb 17, 2024)
16-30358324-C-T		not specified	Uncertain significance (Oct 21, 2021)
16-30358327-G-T		not specified	Uncertain significance (Feb 21, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP