ZNF670

zinc finger protein 670, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 1:247034637-247078811

Links

ENSG00000277462 ∙ NCBI:93474 ∙ ∙ HGNC:28167 ∙ Uniprot:Q9BS34 ∙ AlphaFold ∙ 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 ZNF670 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF670 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			20	1		21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	20	1	0

Variants in ZNF670

This is a list of pathogenic ClinVar variants found in the ZNF670 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-247037477-C-T		not specified	Uncertain significance (Jan 23, 2023)
1-247037603-C-T		not specified	Uncertain significance (Dec 16, 2021)
1-247037637-C-T		not specified	Uncertain significance (Apr 25, 2022)
1-247037675-C-T		not specified	Uncertain significance (May 21, 2024)
1-247037780-G-A		not specified	Uncertain significance (Mar 29, 2022)
1-247037828-C-G		not specified	Uncertain significance (Feb 07, 2023)
1-247037856-A-G		not specified	Uncertain significance (Aug 04, 2023)
1-247037898-G-A		not specified	Uncertain significance (Oct 30, 2023)
1-247037960-G-A		not specified	Uncertain significance (Jan 23, 2023)
1-247037999-T-C		not specified	Likely benign (Aug 16, 2021)
1-247038014-C-T		not specified	Uncertain significance (Oct 03, 2022)
1-247038018-G-A		not specified	Uncertain significance (Jun 17, 2024)
1-247038072-C-T		not specified	Uncertain significance (Sep 29, 2023)
1-247038239-C-G		not specified	Uncertain significance (Jun 03, 2022)
1-247038249-A-C		not specified	Uncertain significance (Jun 18, 2021)
1-247038267-G-A		not specified	Uncertain significance (Aug 15, 2023)
1-247038278-C-T		not specified	Uncertain significance (Mar 01, 2023)
1-247038282-T-C		not specified	Uncertain significance (Jan 26, 2023)
1-247038300-C-T		not specified	Uncertain significance (Feb 23, 2023)
1-247038307-T-G		not specified	Uncertain significance (Jun 17, 2024)
1-247038354-T-C		not specified	Uncertain significance (Oct 20, 2023)
1-247038407-A-G		not specified	Uncertain significance (Aug 12, 2021)
1-247038861-G-A		not specified	Uncertain significance (Jul 21, 2021)
1-247039440-T-C		not specified	Uncertain significance (Aug 26, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Intolerance Scores

• loftool: 0.639
• rvis_EVS: -0.54
• rvis_percentile_EVS: 20.26

Haploinsufficiency Scores

• pHI: 0.0764
• hipred: N
• hipred_score: 0.252

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.647

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II
• Cellular component: nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;protein binding;metal ion binding