ZNF475

Basic information

Region (hg38): 5:122129622-122182658

Links

ENSG00000250803HGNC:53564GenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ZNF475 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF475 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)
0
splice region
0
non coding
0
Total 0 0 0 0 0

Variants in ZNF475

This is a list of pathogenic ClinVar variants found in the ZNF475 region.

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

Position Type Phenotype Significance ClinVar
5-122152000-G-A not specified Uncertain significance (Nov 10, 2021)2260392
5-122152057-C-T not specified Uncertain significance (Feb 07, 2025)3821245
5-122152070-T-A not specified Uncertain significance (Aug 16, 2022)2212392
5-122152156-A-G not specified Uncertain significance (Apr 15, 2024)3258339
5-122152163-C-T not specified Uncertain significance (Jul 27, 2022)2303964
5-122152169-A-G not specified Uncertain significance (Jan 03, 2022)2207241
5-122152177-C-A not specified Uncertain significance (Dec 04, 2024)2398594
5-122152177-C-G not specified Uncertain significance (Sep 03, 2024)3476385
5-122152178-C-A not specified Uncertain significance (Feb 23, 2023)2488173
5-122152221-A-G not specified Likely benign (Sep 10, 2024)3476380
5-122152243-C-A not specified Uncertain significance (Aug 14, 2024)3476382
5-122152250-T-C not specified Uncertain significance (Jan 23, 2023)2471498
5-122152254-G-A Benign (Apr 05, 2018)783444
5-122152258-C-T not specified Uncertain significance (Sep 03, 2024)3476381
5-122152259-G-A Benign (Apr 05, 2018)784058
5-122152259-G-T not specified Uncertain significance (Jan 06, 2023)2474429
5-122152264-C-T not specified Uncertain significance (Nov 17, 2023)3196053
5-122152276-G-T Benign (Feb 26, 2018)788987
5-122152316-T-C not specified Uncertain significance (Nov 15, 2024)3476388
5-122152419-C-A not specified Uncertain significance (Mar 29, 2023)2531066
5-122152424-G-A not specified Uncertain significance (Nov 08, 2024)3476387
5-122152426-G-A not specified Uncertain significance (Feb 06, 2023)2473445
5-122152451-A-T not specified Uncertain significance (Feb 24, 2025)3821246
5-122152507-C-T not specified Uncertain significance (May 24, 2024)3258335
5-122152562-G-T not specified Uncertain significance (Nov 04, 2023)3196054

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP