ZNF594-DT

ZNF594 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 17:5191999-5255713

Links

ENSG00000261879 ∙ NCBI:100130950 ∙ ∙ HGNC:55347 ∙ ∙ ∙ 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 ZNF594-DT gene.

• Inborn genetic diseases (2 variants)
• Head and neck cancer (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF594-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			2	1		3
Total	0	0	2	1	0

Variants in ZNF594-DT

This is a list of pathogenic ClinVar variants found in the ZNF594-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
17-5214937-G-C		not specified	Uncertain significance (Nov 08, 2022)
17-5214940-A-C		not specified	Uncertain significance (Apr 20, 2024)
17-5214981-G-A		not specified	Uncertain significance (Jan 29, 2024)
17-5214983-C-G		not specified	Uncertain significance (Aug 29, 2024)
17-5221317-T-C		not specified	Uncertain significance (Oct 13, 2023)
17-5223377-A-G		not specified	Uncertain significance (Dec 10, 2024)
17-5223379-A-G		Head and neck cancer	Uncertain significance (Jun 10, 2019)
17-5223392-A-G		not specified	Uncertain significance (Sep 26, 2023)
17-5223393-C-T		not specified	Likely benign (Jan 30, 2024)
17-5223402-C-T		not specified	Uncertain significance (Apr 20, 2024)
17-5234744-G-T		not specified	Likely benign (Jun 09, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP