WT1-AS
Basic information
Region (hg38): 11:32435324-32500645
Previous symbols: [ "WIT1" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (5 variants)
- Drash syndrome;Frasier syndrome;Wilms tumor 1;11p partial monosomy syndrome (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the WT1-AS 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 | 6 | |||||
Total | 0 | 0 | 0 | 3 | 3 |
Variants in WT1-AS
This is a list of pathogenic ClinVar variants found in the WT1-AS region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
11-32435325-C-A | 11p partial monosomy syndrome;Drash syndrome;Frasier syndrome;Wilms tumor 1 | Likely benign (Sep 28, 2022) | ||
11-32435325-C-G | Drash syndrome;Frasier syndrome;Wilms tumor 1;11p partial monosomy syndrome | Likely benign (May 30, 2023) | ||
11-32435325-C-T | Drash syndrome;Frasier syndrome;Wilms tumor 1;11p partial monosomy syndrome | Likely benign (Apr 12, 2022) | ||
11-32435326-G-A | Drash syndrome;Frasier syndrome;Wilms tumor 1;11p partial monosomy syndrome | Uncertain significance (Jul 15, 2023) | ||
11-32435326-G-T | Drash syndrome;Frasier syndrome;Wilms tumor 1;11p partial monosomy syndrome | Uncertain significance (Oct 02, 2022) | ||
11-32435327-T-C | Drash syndrome;Wilms tumor 1;11p partial monosomy syndrome;Frasier syndrome | Uncertain significance (Sep 02, 2022) | ||
11-32435327-T-G | Wilms tumor 1;11p partial monosomy syndrome;Frasier syndrome;Drash syndrome | Uncertain significance (Dec 11, 2023) | ||
11-32435327-TG-GT | Frasier syndrome;Drash syndrome;Wilms tumor 1;11p partial monosomy syndrome | Uncertain significance (Aug 13, 2021) | ||
11-32435328-G-A | Frasier syndrome;11p partial monosomy syndrome;Drash syndrome;Wilms tumor 1 | Likely benign (Nov 18, 2021) | ||
11-32435328-G-T | Wilms tumor 1;11p partial monosomy syndrome;Drash syndrome;Frasier syndrome | Likely benign (Jun 22, 2022) | ||
11-32435329-G-A | Wilms tumor 1;11p partial monosomy syndrome;Drash syndrome;Frasier syndrome • Drash syndrome | Uncertain significance (May 07, 2023) | ||
11-32435329-G-C | Wilms tumor 1;11p partial monosomy syndrome;Drash syndrome;Frasier syndrome • Drash syndrome | Uncertain significance (Feb 18, 2024) | ||
11-32435332-G-A | Drash syndrome;Frasier syndrome;Wilms tumor 1;11p partial monosomy syndrome | Uncertain significance (Nov 17, 2023) | ||
11-32435332-G-T | Wilms tumor 1 • Hereditary cancer-predisposing syndrome | Uncertain significance (Apr 28, 2021) | ||
11-32435332-GC-TA | Wilms tumor 1;11p partial monosomy syndrome;Frasier syndrome;Drash syndrome • Hereditary cancer-predisposing syndrome • 8 conditions • Drash syndrome | Uncertain significance (Mar 05, 2024) | ||
11-32435332-GC-AT | Drash syndrome;Frasier syndrome;Wilms tumor 1;11p partial monosomy syndrome | Uncertain significance (Oct 28, 2023) | ||
11-32435333-C-A | Drash syndrome • Hereditary cancer-predisposing syndrome • Frasier syndrome;Drash syndrome;Wilms tumor 1;11p partial monosomy syndrome • WT1-related disorder | Uncertain significance (Dec 25, 2023) | ||
11-32435333-C-T | Drash syndrome;Frasier syndrome;Wilms tumor 1;11p partial monosomy syndrome • Wilms tumor 1 | Uncertain significance (Nov 07, 2023) | ||
11-32435334-C-T | Drash syndrome;Frasier syndrome;Wilms tumor 1;11p partial monosomy syndrome • Hereditary cancer-predisposing syndrome • 8 conditions • WT1-related disorder | Likely benign (Oct 19, 2023) | ||
11-32435335-G-A | Wilms tumor 1;11p partial monosomy syndrome;Drash syndrome;Frasier syndrome • 8 conditions • WT1-related disorder | Uncertain significance (Nov 08, 2023) | ||
11-32435335-G-C | Drash syndrome;Wilms tumor 1;11p partial monosomy syndrome;Frasier syndrome | Uncertain significance (Mar 24, 2023) | ||
11-32435336-G-C | Wilms tumor 1 | Uncertain significance (Aug 15, 2023) | ||
11-32435336-G-T | Frasier syndrome;Wilms tumor 1;11p partial monosomy syndrome;Drash syndrome | Uncertain significance (Oct 06, 2021) | ||
11-32435337-G-A | Wilms tumor 1;11p partial monosomy syndrome;Frasier syndrome;Drash syndrome • Wilms tumor 1 • WT1-related disorder | Likely benign (Feb 24, 2023) | ||
11-32435337-G-C | Drash syndrome;Frasier syndrome;Wilms tumor 1;11p partial monosomy syndrome | Uncertain significance (May 26, 2020) |
GnomAD
Source:
dbNSFP
Source:
Haploinsufficiency Scores
- pHI
- 0.267
- hipred
- hipred_score
- ghis
Mouse Genome Informatics
- Gene name
- Wt1os
- Phenotype
Gene ontology
- Biological process
- biological_process
- Cellular component
- cellular_component
- Molecular function
- molecular_function;protein binding