TRAF3IP2-AS1
Basic information
Region (hg38): 6:111483389-111598784
Previous symbols: [ "TRAF3IP2-AS2", "C6orf3", "NCRNA00248" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Candidiasis, familial, 8 (207 variants)
- Inborn genetic diseases (19 variants)
- not provided (10 variants)
- not specified (3 variants)
- Psoriasis 13, susceptibility to;Candidiasis, familial, 8 (3 variants)
- Psoriasis 13, susceptibility to (1 variants)
- Discoid lupus rash (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRAF3IP2-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 | 122 | 72 | 14 | 219 | ||
Total | 9 | 2 | 122 | 72 | 14 |
Highest pathogenic variant AF is 0.0000197
Variants in TRAF3IP2-AS1
This is a list of pathogenic ClinVar variants found in the TRAF3IP2-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 |
---|---|---|---|---|
6-111559411-G-C | Candidiasis, familial, 8 | Likely benign (Jul 13, 2020) | ||
6-111559417-C-A | Candidiasis, familial, 8 | Likely benign (Jun 03, 2023) | ||
6-111559422-G-A | Candidiasis, familial, 8 | Uncertain significance (Feb 20, 2018) | ||
6-111559423-A-G | Candidiasis, familial, 8 | Likely benign (Apr 18, 2022) | ||
6-111559426-G-C | Candidiasis, familial, 8 | Likely benign (Jun 24, 2023) | ||
6-111559429-G-T | Candidiasis, familial, 8 | Likely benign (Apr 12, 2023) | ||
6-111559442-C-T | not specified | Uncertain significance (Jan 27, 2022) | ||
6-111559467-C-T | Candidiasis, familial, 8 | Uncertain significance (Apr 21, 2022) | ||
6-111559489-G-A | Candidiasis, familial, 8 | Benign (Jan 03, 2024) | ||
6-111559489-G-GT | Candidiasis, familial, 8 | Uncertain significance (Dec 22, 2023) | ||
6-111559506-G-A | Candidiasis, familial, 8 | Uncertain significance (Dec 11, 2023) | ||
6-111559520-T-C | Candidiasis, familial, 8 | Benign (Jan 24, 2024) | ||
6-111559523-G-A | Candidiasis, familial, 8 | Pathogenic (Oct 17, 2013) | ||
6-111559528-C-T | Candidiasis, familial, 8 | Likely benign (Aug 03, 2020) | ||
6-111559529-T-C | Candidiasis, familial, 8 | Uncertain significance (Jul 12, 2022) | ||
6-111559535-C-G | Psoriasis 13, susceptibility to | Uncertain significance (Mar 17, 2024) | ||
6-111559539-T-C | Candidiasis, familial, 8 | Uncertain significance (Apr 03, 2021) | ||
6-111559551-C-A | Candidiasis, familial, 8 | Uncertain significance (Jun 05, 2018) | ||
6-111559557-G-T | Candidiasis, familial, 8 | Likely benign (Dec 25, 2023) | ||
6-111562947-GT-G | Candidiasis, familial, 8 | Likely benign (Dec 11, 2023) | ||
6-111562947-GTTTC-G | Candidiasis, familial, 8 | Likely benign (Jan 22, 2024) | ||
6-111562951-C-G | Candidiasis, familial, 8 | Likely benign (May 15, 2023) | ||
6-111562951-CTTTG-C | Candidiasis, familial, 8 | Likely benign (Nov 27, 2023) | ||
6-111562986-C-T | Candidiasis, familial, 8 | Likely benign (Nov 27, 2023) | ||
6-111562992-G-A | Candidiasis, familial, 8 | Likely benign (Jul 30, 2019) |
GnomAD
Source:
dbNSFP
Source: