ZNF321P

zinc finger protein 321, pseudogene

Basic information

Region (hg38): 19:52928903-52929397

Previous symbols: [ "ZNF321" ]

Links

ENSG00000213801 ∙ NCBI:399669 ∙ ∙ HGNC:13827 ∙ Uniprot:Q8N8H1 ∙ 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 ZNF321P gene.

• Inborn genetic diseases (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF321P 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)			1			1
splice region						0
non coding			8			8
Total	0	0	9	0	0

Variants in ZNF321P

This is a list of pathogenic ClinVar variants found in the ZNF321P region.

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

Position	Type	Phenotype	Significance	ClinVar
19-52928935-T-C		not specified	Uncertain significance (Nov 21, 2022)
19-52929021-C-A		not specified	Uncertain significance (May 11, 2022)
19-52929092-C-A		not specified	Uncertain significance (May 27, 2022)
19-52929180-T-C		not specified	Uncertain significance (May 26, 2022)
19-52929181-G-A		not specified	Uncertain significance (Sep 30, 2021)
19-52929208-T-C		not specified	Uncertain significance (Jun 16, 2024)
19-52929229-C-T		not specified	Uncertain significance (May 25, 2022)
19-52929232-G-A		not specified	Uncertain significance (Aug 30, 2021)
19-52929262-A-T		not specified	Uncertain significance (Jan 19, 2024)
19-52929266-A-T		not specified	Uncertain significance (May 29, 2024)
19-52929280-C-G		not specified	Uncertain significance (Dec 28, 2022)
19-52929292-C-T		not specified	Uncertain significance (Jun 07, 2024)
19-52929313-T-C		not specified	Uncertain significance (May 02, 2024)
19-52929387-T-A		not specified	Uncertain significance (Aug 31, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.132

Essentials

• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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