ZNF511-PRAP1

ZNF511-PRAP1 readthrough

Basic information

Region (hg38): 10:133309409-133352529

Links

ENSG00000283496 ∙ NCBI:104326056 ∙ ∙ HGNC:38088 ∙ ∙ ∙ 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 ZNF511-PRAP1 gene.

• Inborn genetic diseases (23 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF511-PRAP1 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			14			14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			9	1		10
Total	0	0	23	1	0

Variants in ZNF511-PRAP1

This is a list of pathogenic ClinVar variants found in the ZNF511-PRAP1 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-133309421-A-C		not specified	Uncertain significance (Jun 02, 2023)
10-133309422-G-C		not specified	Uncertain significance (Dec 05, 2022)
10-133309432-A-G		not specified	Uncertain significance (Jun 18, 2021)
10-133309434-G-T		not specified	Uncertain significance (Jan 16, 2024)
10-133309873-T-C		not specified	Uncertain significance (Oct 12, 2021)
10-133309958-T-C		not specified	Uncertain significance (Feb 28, 2023)
10-133310177-T-C		not specified	Uncertain significance (Nov 03, 2022)
10-133310182-G-A		not specified	Uncertain significance (Feb 06, 2024)
10-133310225-A-G		not specified	Uncertain significance (Mar 06, 2023)
10-133311721-C-G		not specified	Uncertain significance (Sep 28, 2022)
10-133311753-C-T		not specified	Uncertain significance (Jun 21, 2023)
10-133311762-G-A		not specified	Uncertain significance (Apr 25, 2023)
10-133311816-G-C		not specified	Uncertain significance (Feb 26, 2024)
10-133311820-A-G		not specified	Uncertain significance (Dec 18, 2023)
10-133312826-G-A		not specified	Uncertain significance (Dec 01, 2022)
10-133325868-G-A		not specified	Uncertain significance (Jan 17, 2024)
10-133325897-G-T		not specified	Uncertain significance (Oct 03, 2023)
10-133325906-G-C		not specified	Uncertain significance (Jan 05, 2022)
10-133325976-A-T		not specified	Uncertain significance (Mar 17, 2023)
10-133326052-G-T		not specified	Uncertain significance (Jun 18, 2021)
10-133326112-G-A			Likely benign (Jun 01, 2022)
10-133326933-A-G		not specified	Uncertain significance (Nov 29, 2021)
10-133326982-C-A		not specified	Uncertain significance (Mar 16, 2022)
10-133327909-C-T		not specified	Uncertain significance (Nov 17, 2023)
10-133327919-C-T		not specified	Uncertain significance (Apr 25, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Gene ontology

• Molecular function: nucleic acid binding