DLX6-AS1
Basic information
Region (hg38): 7:96955141-97014088
Previous symbols: [ "NCRNA00212" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (48 variants)
- Inborn genetic diseases (4 variants)
- not specified (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the DLX6-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 | 29 | 12 | 11 | 52 | ||
Total | 0 | 0 | 29 | 12 | 11 |
Variants in DLX6-AS1
This is a list of pathogenic ClinVar variants found in the DLX6-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 |
---|---|---|---|---|
7-97006014-G-A | not specified | Uncertain significance (Sep 25, 2023) | ||
7-97006028-C-T | Benign (Nov 14, 2023) | |||
7-97006051-GGCA-G | Benign (Mar 24, 2021) | |||
7-97006051-GGCAGCA-G | DLX6-related disorder | Uncertain significance (Apr 10, 2023) | ||
7-97006051-GGCAGCAGCA-G | Uncertain significance (Mar 02, 2023) | |||
7-97006051-G-GGCA | DLX6-related disorder | Uncertain significance (Aug 07, 2023) | ||
7-97006051-G-GGCAGCA | Uncertain significance (Aug 17, 2023) | |||
7-97006051-G-GGCAGCAGCAGCA | DLX6-related disorder | Uncertain significance (Sep 21, 2023) | ||
7-97006051-G-GGCAGCAGCAGCAGCA | Uncertain significance (Jul 15, 2022) | |||
7-97006052-GCAGCAGCAGCAGCAGCAGCAGCAA-G | Uncertain significance (Jun 18, 2022) | |||
7-97006052-G-GCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCAA | Uncertain significance (Jul 14, 2023) | |||
7-97006052-G-GCAGCAGCAGCAGCAGCAGCAGCAA | not specified | Conflicting classifications of pathogenicity (Dec 06, 2023) | ||
7-97006055-GCAGCAGCAGCAGCAGCAGCAA-G | Uncertain significance (Sep 05, 2023) | |||
7-97006055-G-GCAGCAGCAGCAGCAGCAGCAA | Uncertain significance (Nov 30, 2022) | |||
7-97006058-GCAGCAGCAGCAGCAGCAA-G | Uncertain significance (Aug 04, 2023) | |||
7-97006061-GCAGCAGCAGCAGCAA-G | Uncertain significance (Aug 17, 2023) | |||
7-97006064-G-GCAGCAGCAGCAA | Uncertain significance (Jun 22, 2023) | |||
7-97006070-G-A | DLX6-related disorder | Likely benign (Dec 08, 2021) | ||
7-97006076-A-G | Likely benign (Apr 10, 2023) | |||
7-97006076-A-ACAG | DLX6-related disorder | Uncertain significance (Apr 09, 2023) | ||
7-97006076-A-ACAGCAGCAG | Uncertain significance (Aug 03, 2023) | |||
7-97006079-G-A | Likely benign (Mar 01, 2023) | |||
7-97006080-C-G | Uncertain significance (Nov 15, 2023) | |||
7-97006081-AGCAGCAGCAGCAGCAGCAACAGCAACA-C | Uncertain significance (Dec 08, 2021) | |||
7-97006082-G-A | Likely benign (Dec 07, 2023) |
GnomAD
Source:
dbNSFP
Source:
Mouse Genome Informatics
- Gene name
- Dlx6os1
- Phenotype
- nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan);