ZCCHC3

zinc finger CCHC-type containing 3, the group of Zinc fingers CCHC-type

Basic information

Region (hg38): 20:297570-300321

Previous symbols: [ "C20orf99" ]

Links

ENSG00000247315 ∙ NCBI:85364 ∙ OMIM:618326 ∙ HGNC:16230 ∙ Uniprot:Q9NUD5 ∙ 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 ZCCHC3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZCCHC3 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			10			10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	0	0

Variants in ZCCHC3

This is a list of pathogenic ClinVar variants found in the ZCCHC3 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-297593-A-C		not specified	Uncertain significance (May 31, 2023)
20-297647-C-G		not specified	Uncertain significance (Aug 17, 2022)
20-297647-C-T		not specified	Uncertain significance (Apr 18, 2024)
20-297650-G-C		not specified	Uncertain significance (Jun 21, 2022)
20-297683-G-A		not specified	Uncertain significance (May 18, 2023)
20-297687-G-A		not specified	Uncertain significance (Feb 27, 2024)
20-297692-G-A		not specified	Uncertain significance (Nov 10, 2022)
20-297761-C-T		not specified	Uncertain significance (Feb 23, 2023)
20-297780-A-G		not specified	Uncertain significance (Jun 21, 2023)
20-297807-G-C		not specified	Uncertain significance (Apr 08, 2024)
20-297836-C-T		not specified	Uncertain significance (Nov 22, 2023)
20-297869-G-C		not specified	Uncertain significance (May 23, 2024)
20-297974-G-A		not specified	Uncertain significance (Sep 01, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.160

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.816

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zcchc3

Gene ontology

• Molecular function: RNA binding;zinc ion binding