ZBTB47-AS1
Basic information
Region (hg38): 3:42601961-42654396
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 ZBTB47-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 | 1 | |||||
| Total | 0 | 0 | 1 | 0 | 0 |
Variants in ZBTB47-AS1
This is a list of pathogenic ClinVar variants found in the ZBTB47-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 |
|---|---|---|---|---|
| 3-42619073-A-T | not specified | Uncertain significance (Apr 18, 2023) | ||
| 3-42619091-A-G | not specified | Uncertain significance (May 26, 2024) | ||
| 3-42621436-C-G | not specified | Uncertain significance (Feb 07, 2025) | ||
| 3-42621483-G-A | not specified | Uncertain significance (Apr 04, 2023) | ||
| 3-42630559-G-T | not specified | Uncertain significance (Oct 30, 2024) | ||
| 3-42631292-C-T | not specified | Uncertain significance (Mar 15, 2024) | ||
| 3-42632664-C-T | not specified | Uncertain significance (Dec 21, 2022) | ||
| 3-42632737-G-C | not specified | Uncertain significance (Oct 01, 2024) | ||
| 3-42632751-G-A | not specified | Likely benign (Dec 14, 2023) | ||
| 3-42633618-T-G | Benign (Dec 31, 2019) | |||
| 3-42633623-T-G | not specified | Uncertain significance (Jan 03, 2025) | ||
| 3-42633686-C-G | not specified | Uncertain significance (Jan 01, 2025) | ||
| 3-42633720-C-T | not specified | Uncertain significance (Feb 05, 2024) | ||
| 3-42634632-C-A | not specified | Uncertain significance (Oct 20, 2024) | ||
| 3-42635247-A-T | not specified | Uncertain significance (Apr 27, 2024) | ||
| 3-42635269-G-C | not specified | Uncertain significance (May 09, 2022) | ||
| 3-42635320-A-G | not specified | Uncertain significance (Feb 05, 2024) | ||
| 3-42635323-G-A | not specified | Uncertain significance (May 31, 2023) | ||
| 3-42636891-G-A | not specified | Uncertain significance (May 26, 2024) | ||
| 3-42636891-G-T | not specified | Uncertain significance (Jun 28, 2022) | ||
| 3-42636939-A-G | not specified | Uncertain significance (Jun 07, 2023) | ||
| 3-42636948-A-T | not specified | Uncertain significance (Jul 25, 2024) | ||
| 3-42636971-C-T | not specified | Uncertain significance (Dec 30, 2024) | ||
| 3-42636992-C-T | not specified | Uncertain significance (Jul 09, 2021) | ||
| 3-42637002-A-C | not specified | Uncertain significance (Oct 29, 2021) |
GnomAD
Source:
dbNSFP
Source: