DARS1-AS1
Basic information
Region (hg38): 2:135985122-136078527
Previous symbols: [ "DARS-AS1" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (8 variants)
- not specified (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the DARS1-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 | 9 | |||||
Total | 0 | 0 | 1 | 4 | 4 |
Variants in DARS1-AS1
This is a list of pathogenic ClinVar variants found in the DARS1-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 |
---|---|---|---|---|
2-135985369-T-C | Benign (Jul 22, 2019) | |||
2-135985385-G-A | Likely benign (Mar 10, 2023) | |||
2-135985430-C-T | Likely benign (Sep 09, 2022) | |||
2-135985437-T-C | Uncertain significance (Jan 20, 2020) | |||
2-135985447-G-GGCTGGC | Conflicting classifications of pathogenicity (Nov 24, 2023) | |||
2-135985458-G-A | Inborn genetic diseases | Uncertain significance (Jan 29, 2024) | ||
2-135985510-G-C | not specified | Benign (Apr 07, 2016) | ||
2-135985568-A-G | Benign (Jun 24, 2021) | |||
2-135985573-G-C | Benign (Jun 29, 2018) | |||
2-135985740-G-T | Likely benign (Jun 23, 2018) | |||
2-135985829-T-C | Likely benign (Jun 24, 2021) |
GnomAD
Source:
dbNSFP
Source: