ZNF652-AS1
Basic information
Region (hg38): 17:49361150-49476988
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF652-AS1 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 ZNF652-AS1
This is a list of pathogenic ClinVar variants found in the ZNF652-AS1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
17-49404263-G-A | Breast cancer, susceptibility to | risk factor (May 19, 2001) | ||
17-49405058-G-A | Benign (Nov 09, 2018) | |||
17-49406866-G-C | Benign (Aug 17, 2019) | |||
17-49409096-G-A | PHB1-related disorder | Likely benign (Mar 20, 2019) | ||
17-49409322-T-C | PHB1-related disorder | Benign (Oct 24, 2019) | ||
17-49409414-G-A | not specified | Uncertain significance (Nov 06, 2023) | ||
17-49409447-G-A | not specified | Uncertain significance (Jun 05, 2024) | ||
17-49411689-G-C | not specified | Uncertain significance (Aug 21, 2023) | ||
17-49411726-C-A | not specified | Uncertain significance (Aug 20, 2023) | ||
17-49411776-C-T | not specified | Uncertain significance (Nov 08, 2022) | ||
17-49413201-C-T | Ovarian cancer | Benign (Jan 01, 2022) |
GnomAD
Source:
dbNSFP
Source: