ZNF518A

zinc finger protein 518A, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 10:96129715-96205288

Previous symbols: [ "ZNF518" ]

Links

ENSG00000177853 ∙ NCBI:9849 ∙ OMIM:617733 ∙ HGNC:29009 ∙ Uniprot:Q6AHZ1 ∙ 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 ZNF518A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF518A 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				4		4
missense			63	7		70
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	63	11	0

Variants in ZNF518A

This is a list of pathogenic ClinVar variants found in the ZNF518A region.

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

Position	Type	Phenotype	Significance	ClinVar
10-96156402-T-C		not specified	Uncertain significance (Mar 01, 2024)
10-96156474-A-T		not specified	Uncertain significance (May 04, 2023)
10-96156515-C-T		not specified	Uncertain significance (Mar 07, 2024)
10-96156578-A-C		not specified	Uncertain significance (May 08, 2023)
10-96156581-A-G		not specified	Likely benign (Jul 20, 2021)
10-96156607-G-C		not specified	Uncertain significance (May 25, 2022)
10-96156611-A-T		not specified	Uncertain significance (Feb 15, 2023)
10-96156705-C-A		not specified	Uncertain significance (Jan 30, 2024)
10-96156789-A-G		not specified	Likely benign (Jan 08, 2024)
10-96156831-G-A		not specified	Uncertain significance (Nov 03, 2023)
10-96156873-A-G		not specified	Uncertain significance (May 23, 2023)
10-96156881-G-A		not specified	Uncertain significance (Dec 31, 2023)
10-96156955-G-T		not specified	Uncertain significance (Nov 07, 2022)
10-96156998-A-G		not specified	Uncertain significance (Nov 20, 2023)
10-96157148-C-A		not specified	Uncertain significance (Nov 03, 2023)
10-96157169-A-G		not specified	Uncertain significance (Jan 22, 2024)
10-96157193-G-A		not specified	Uncertain significance (Nov 30, 2022)
10-96157215-A-G		not specified	Uncertain significance (Jan 23, 2023)
10-96157296-A-G		not specified	Uncertain significance (Sep 27, 2022)
10-96157299-C-T		not specified	Uncertain significance (Feb 26, 2024)
10-96157311-G-A		not specified	Uncertain significance (Feb 28, 2024)
10-96157338-G-A		not specified	Uncertain significance (Apr 20, 2023)
10-96157404-A-G		not specified	Uncertain significance (Jul 20, 2022)
10-96157407-G-A		not specified	Uncertain significance (Jan 23, 2024)
10-96157470-A-G		not specified	Uncertain significance (Apr 17, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.

Recessive Scores

• pRec: 0.0864

Haploinsufficiency Scores

• pHI: 0.371

Mouse Genome Informatics

• Gene name: Zfp518a

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;metal ion binding