DAOA-AS1
Basic information
Region (hg38): 13:105459055-105505681
Previous symbols: [ "DAOAAS", "DAOA-AS" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (9 variants)
- Inborn genetic diseases (3 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the DAOA-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) | 1 | |||||
splice region | 0 | |||||
non coding | 6 | |||||
Total | 0 | 0 | 3 | 1 | 3 |
Variants in DAOA-AS1
This is a list of pathogenic ClinVar variants found in the DAOA-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 |
---|---|---|---|---|
13-105467097-G-A | not provided (-) | |||
13-105467101-C-A | not specified | Uncertain significance (Nov 27, 2024) | ||
13-105467118-C-A | not specified | Uncertain significance (Mar 23, 2023) | ||
13-105467134-C-G | not provided (-) | |||
13-105467138-A-G | not specified | Uncertain significance (May 23, 2024) | ||
13-105472599-T-C | not specified | Likely benign (Jan 24, 2024) | ||
13-105472627-A-C | Likely benign (Mar 29, 2018) | |||
13-105472631-A-G | not specified | Uncertain significance (Dec 07, 2023) | ||
13-105472642-T-A | not specified | Uncertain significance (Dec 15, 2022) | ||
13-105472644-A-C | not specified | Likely benign (Dec 12, 2023) | ||
13-105472644-A-T | Benign (Jan 08, 2018) | |||
13-105472657-G-T | not provided (-) | |||
13-105472675-C-T | not provided (-) | |||
13-105472693-T-C | Benign (Jan 08, 2018) | |||
13-105489901-G-C | not specified | Uncertain significance (Apr 15, 2024) | ||
13-105489984-G-A | not specified | Uncertain significance (Sep 27, 2024) | ||
13-105490001-C-G | not specified | Uncertain significance (May 11, 2022) | ||
13-105490025-C-G | Benign (Jan 08, 2018) | |||
13-105490053-A-G | not provided (-) |
GnomAD
Source:
dbNSFP
Source: