CDC20-DT

CDC20 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 1:43351247-43358861

Links

ENSG00000234694 ∙ NCBI:105378687 ∙ ∙ HGNC:55681 ∙ ∙ ∙ 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 CDC20-DT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CDC20-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						0
Total	0	0	0	0	0

Variants in CDC20-DT

This is a list of pathogenic ClinVar variants found in the CDC20-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
1-43352197-T-C		Essential thrombocythemia;Congenital amegakaryocytic thrombocytopenia	Likely benign (Feb 01, 2023)
1-43352200-C-T		Essential thrombocythemia;Congenital amegakaryocytic thrombocytopenia	Likely benign (Jan 29, 2024)
1-43352201-T-C		Essential thrombocythemia;Congenital amegakaryocytic thrombocytopenia	Likely benign (Feb 21, 2023)
1-43352202-T-C		Essential thrombocythemia;Congenital amegakaryocytic thrombocytopenia	Likely benign (Jun 05, 2023)
1-43352208-T-C		Essential thrombocythemia;Congenital amegakaryocytic thrombocytopenia	Likely benign (Aug 27, 2024)
1-43352208-TC-T		Congenital amegakaryocytic thrombocytopenia;Essential thrombocythemia	Benign (Feb 29, 2024)
1-43352209-C-T		Essential thrombocythemia;Congenital amegakaryocytic thrombocytopenia	Conflicting classifications of pathogenicity (Jan 30, 2024)
1-43352210-C-T		Congenital amegakaryocytic thrombocytopenia;Essential thrombocythemia	Likely benign (Apr 10, 2023)
1-43352215-G-A		Essential thrombocythemia;Congenital amegakaryocytic thrombocytopenia • Primary myelofibrosis;Congenital amegakaryocytic thrombocytopenia;Thrombocythemia 2	Likely pathogenic (Oct 12, 2021)
1-43352215-G-T		Congenital amegakaryocytic thrombocytopenia 1	Pathogenic (Aug 01, 2000)
1-43352217-A-G		Essential thrombocythemia;Congenital amegakaryocytic thrombocytopenia	Uncertain significance (Jul 18, 2023)
1-43352220-C-T		Congenital amegakaryocytic thrombocytopenia • Thrombocythemia 1 • Congenital amegakaryocytic thrombocytopenia;Essential thrombocythemia • not specified • MPL-related disorder • Inborn genetic diseases	Likely benign (Nov 11, 2024)
1-43352222-G-A		Congenital amegakaryocytic thrombocytopenia;Essential thrombocythemia	Likely benign (Feb 19, 2024)
1-43352222-G-C		Essential thrombocythemia;Congenital amegakaryocytic thrombocytopenia	Likely benign (Sep 19, 2022)
1-43352222-GA-G		Congenital amegakaryocytic thrombocytopenia;Essential thrombocythemia	Pathogenic (Jul 21, 2021)
1-43352223-A-C		Essential thrombocythemia;Congenital amegakaryocytic thrombocytopenia	Likely benign (Feb 05, 2024)
1-43352234-G-A		Congenital amegakaryocytic thrombocytopenia;Essential thrombocythemia	Likely benign (Oct 14, 2020)
1-43352239-C-T		Congenital amegakaryocytic thrombocytopenia • Congenital amegakaryocytic thrombocytopenia 1	Conflicting classifications of pathogenicity (May 20, 2023)
1-43352252-C-G		Congenital amegakaryocytic thrombocytopenia;Essential thrombocythemia	Uncertain significance (Sep 30, 2024)
1-43352253-C-T		Congenital amegakaryocytic thrombocytopenia;Essential thrombocythemia	Likely benign (Feb 25, 2022)
1-43352255-G-T		Congenital amegakaryocytic thrombocytopenia;Essential thrombocythemia	Likely benign (Sep 03, 2023)
1-43352259-C-A		Congenital amegakaryocytic thrombocytopenia;Essential thrombocythemia	Likely benign (Feb 12, 2024)
1-43352259-C-T		Congenital amegakaryocytic thrombocytopenia • Thrombocythemia 1 • Congenital amegakaryocytic thrombocytopenia;Essential thrombocythemia • not specified	Conflicting classifications of pathogenicity (Mar 04, 2024)
1-43352260-G-A		Thrombocythemia 2 • Essential thrombocythemia;Congenital amegakaryocytic thrombocytopenia	Uncertain significance (Nov 30, 2024)
1-43352262-G-C		Thrombocythemia 2 • Congenital amegakaryocytic thrombocytopenia;Essential thrombocythemia	Uncertain significance (Jul 25, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP