ZSCAN26
Basic information
Region (hg38): 6:28267057-28278224
Previous symbols: [ "ZNF187" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (4 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZSCAN26 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 | 4 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region ? | 0 | |||||
non coding ? | 0 | |||||
Total | 0 | 0 | 4 | 0 | 0 |
Variants in ZSCAN26
This is a list of pathogenic ClinVar variants found in the ZSCAN26 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
6-28272131-G-A | not specified | Uncertain significance (Sep 27, 2021) | ||
6-28276609-A-T | not specified | Uncertain significance (Nov 10, 2021) | ||
6-28276780-C-A | not specified | Uncertain significance (Mar 06, 2023) | ||
6-28276799-C-T | not specified | Likely benign (Mar 08, 2024) | ||
6-28276948-C-G | not specified | Uncertain significance (Feb 21, 2024) | ||
6-28276985-A-G | not specified | Likely benign (Feb 21, 2024) | ||
6-28277049-G-A | not specified | Uncertain significance (Aug 17, 2022) |
GnomAD
Source:
dbNSFP
Source:
- Function
- FUNCTION: May be involved in transcriptional regulation. {ECO:0000305}.;
Recessive Scores
- pRec
- 0.0742
Haploinsufficiency Scores
- pHI
- 0.0617
- hipred
- hipred_score
- ghis
Mouse Genome Informatics
- Gene name
- Zscan26
- Phenotype
Gene ontology
- Biological process
- regulation of transcription, DNA-templated;myelination;negative regulation of transcription, DNA-templated
- Cellular component
- nucleus;nucleoplasm;cytosol
- Molecular function
- nucleic acid binding;DNA-binding transcription factor activity;protein binding;metal ion binding