TRIM31-AS1
Basic information
Region (hg38): 6:30100827-30114724
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (13 variants)
- not provided (12 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIM31-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) | 2 | |||||
splice region | 0 | |||||
non coding | 20 | |||||
Total | 0 | 0 | 9 | 6 | 7 |
Variants in TRIM31-AS1
This is a list of pathogenic ClinVar variants found in the TRIM31-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 |
---|---|---|---|---|
6-30103586-C-A | Likely benign (Jul 17, 2018) | |||
6-30103618-G-A | not specified | Uncertain significance (Aug 28, 2023) | ||
6-30103766-G-C | not specified | Uncertain significance (Jun 22, 2023) | ||
6-30103770-C-T | Benign (Jun 28, 2018) | |||
6-30103785-G-T | Likely benign (Aug 01, 2022) | |||
6-30104104-G-A | not specified | Uncertain significance (Oct 10, 2023) | ||
6-30105176-A-G | not specified | Uncertain significance (Aug 02, 2021) | ||
6-30105203-A-T | not specified | Uncertain significance (Aug 08, 2022) | ||
6-30108131-G-A | not specified | Uncertain significance (Oct 27, 2022) | ||
6-30108167-T-C | not specified | Uncertain significance (Dec 28, 2022) | ||
6-30109036-C-T | not specified | Uncertain significance (May 16, 2023) | ||
6-30110458-T-C | Benign (Apr 16, 2018) | |||
6-30110458-T-G | not specified | Uncertain significance (Dec 09, 2023) | ||
6-30110485-T-C | Likely benign (May 21, 2018) | |||
6-30110488-A-G | Benign (May 21, 2018) | |||
6-30110554-G-A | not specified | Uncertain significance (Mar 07, 2024) | ||
6-30110560-G-A | not specified | Uncertain significance (May 20, 2024) | ||
6-30110561-T-C | not specified | Likely benign (Dec 28, 2022) | ||
6-30110581-T-G | not specified | Uncertain significance (Jul 06, 2021) | ||
6-30110597-G-T | not specified | Uncertain significance (Oct 28, 2023) | ||
6-30110633-G-A | not specified | Conflicting classifications of pathogenicity (Dec 11, 2023) | ||
6-30110667-T-G | not specified | Conflicting classifications of pathogenicity (Dec 11, 2023) | ||
6-30110673-C-G | not specified | Uncertain significance (Mar 28, 2024) | ||
6-30111715-A-G | not specified | Uncertain significance (Jul 20, 2021) | ||
6-30111718-A-G | not specified | Uncertain significance (Jan 10, 2023) |
GnomAD
Source:
dbNSFP
Source: