ZNF8-ERVK3-1

ZNF8-ERVK3-1 readthrough (NMD candidate)

Basic information

Region (hg38): 19:58278966-58315197

Links

ENSG00000267216 ∙ NCBI:108903150 ∙ ∙ HGNC:56757 ∙ ∙ ∙ 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 ZNF8-ERVK3-1 gene.

• Inborn genetic diseases (29 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF8-ERVK3-1 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			29	1		30
Total	0	0	29	1	0

Variants in ZNF8-ERVK3-1

This is a list of pathogenic ClinVar variants found in the ZNF8-ERVK3-1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-58279140-G-A		not specified	Uncertain significance (Jan 22, 2024)
19-58279143-T-G		not specified	Uncertain significance (Aug 12, 2021)
19-58285717-G-C		not specified	Uncertain significance (Feb 13, 2024)
19-58285838-C-G		not specified	Uncertain significance (Feb 23, 2023)
19-58294142-G-A		not specified	Uncertain significance (Jan 27, 2025)
19-58294151-G-C		not specified	Uncertain significance (Jun 26, 2023)
19-58294233-A-G		not specified	Uncertain significance (Mar 25, 2024)
19-58294281-A-G		not specified	Uncertain significance (Apr 18, 2023)
19-58294338-G-C		not specified	Uncertain significance (Aug 03, 2022)
19-58294359-T-C		not specified	Uncertain significance (Jan 04, 2022)
19-58294412-A-G		not specified	Uncertain significance (Aug 16, 2022)
19-58294413-C-T		not specified	Uncertain significance (May 04, 2022)
19-58294418-G-A		not specified	Uncertain significance (May 09, 2024)
19-58294433-G-C		not specified	Uncertain significance (Jan 08, 2025)
19-58294493-G-A		not specified	Uncertain significance (Apr 27, 2022)
19-58294520-T-A		not specified	Uncertain significance (May 24, 2023)
19-58294538-A-T		not specified	Uncertain significance (Nov 13, 2024)
19-58294542-C-T		not specified	Uncertain significance (Jan 15, 2025)
19-58294574-C-T		not specified	Uncertain significance (Feb 19, 2025)
19-58294611-A-G		not specified	Uncertain significance (Jan 26, 2022)
19-58294671-A-G		not specified	Uncertain significance (Sep 16, 2021)
19-58294701-C-A		not specified	Uncertain significance (Oct 04, 2024)
19-58294721-C-T		not specified	Uncertain significance (Feb 07, 2025)
19-58294770-C-T		not specified	Uncertain significance (May 16, 2023)
19-58294815-C-A		not specified	Uncertain significance (Aug 17, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP