SLIT3-AS2
Basic information
Region (hg38): 5:168706567-168720884
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (6 variants)
- Inborn genetic diseases (2 variants)
- SLIT3-related anomalies of the kidney and urinary tract (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLIT3-AS2 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 | 9 | |||||
Total | 0 | 0 | 3 | 3 | 3 |
Variants in SLIT3-AS2
This is a list of pathogenic ClinVar variants found in the SLIT3-AS2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
5-168708015-A-G | Likely benign (Feb 01, 2023) | |||
5-168708094-A-C | not specified | Uncertain significance (Apr 04, 2024) | ||
5-168710886-G-A | Benign (Jul 04, 2018) | |||
5-168710911-G-T | not specified | Uncertain significance (Oct 08, 2024) | ||
5-168710938-G-C | not specified | Uncertain significance (Aug 05, 2024) | ||
5-168710960-C-T | not specified | Uncertain significance (Jan 23, 2024) | ||
5-168710971-G-A | Likely benign (Feb 01, 2023) | |||
5-168710993-G-A | not specified | Uncertain significance (Jun 09, 2022) | ||
5-168711047-G-T | not specified | Uncertain significance (Nov 11, 2024) | ||
5-168711055-C-T | Likely benign (Dec 01, 2022) | |||
5-168712274-G-A | Benign (May 18, 2018) | |||
5-168712305-C-T | Benign (Aug 16, 2018) | |||
5-168712307-T-C | not specified | Uncertain significance (Aug 04, 2021) | ||
5-168720289-T-C | SLIT3-related anomalies of the kidney and urinary tract | Uncertain significance (Dec 13, 2022) |
GnomAD
Source:
dbNSFP
Source: