DOCK9-AS1
Basic information
Region (hg38): 13:98811020-98834640
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the DOCK9-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 | 0 | |||||
Total | 0 | 0 | 0 | 0 | 0 |
Variants in DOCK9-AS1
This is a list of pathogenic ClinVar variants found in the DOCK9-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 |
---|---|---|---|---|
13-98824401-G-A | Benign (May 03, 2018) | |||
13-98824419-C-A | not specified | Uncertain significance (Oct 06, 2024) | ||
13-98824454-C-T | not specified | Uncertain significance (Jul 26, 2024) | ||
13-98824457-T-G | not specified | Uncertain significance (Jan 25, 2023) | ||
13-98824481-C-T | not specified | Uncertain significance (Jun 22, 2023) | ||
13-98825878-G-A | not specified | Uncertain significance (Nov 07, 2024) | ||
13-98825922-G-A | not specified | Uncertain significance (Sep 01, 2021) | ||
13-98826836-G-A | not specified | Uncertain significance (Oct 20, 2024) | ||
13-98826872-C-T | not specified | Uncertain significance (Aug 10, 2024) | ||
13-98829318-C-T | not specified | Uncertain significance (Oct 13, 2023) | ||
13-98829351-C-T | not specified | Uncertain significance (Oct 11, 2024) | ||
13-98829429-G-T | not specified | Uncertain significance (Sep 01, 2021) | ||
13-98829433-G-A | Likely benign (Mar 01, 2023) | |||
13-98829653-C-T | not specified | Uncertain significance (Mar 05, 2024) | ||
13-98829681-T-C | not specified | Uncertain significance (Jul 27, 2022) | ||
13-98829723-C-T | not specified | Uncertain significance (Jun 09, 2022) | ||
13-98829756-C-T | not specified | Uncertain significance (Jul 13, 2021) | ||
13-98831433-G-A | not specified | Uncertain significance (Dec 25, 2024) | ||
13-98831487-G-A | not specified | Uncertain significance (Mar 30, 2024) | ||
13-98831502-G-A | not specified | Uncertain significance (May 18, 2022) | ||
13-98831520-G-A | not specified | Uncertain significance (Aug 28, 2024) | ||
13-98831653-T-C | not specified | Uncertain significance (Dec 20, 2023) | ||
13-98831674-G-A | not specified | Uncertain significance (Jun 02, 2023) | ||
13-98831698-T-A | not specified | Uncertain significance (Dec 14, 2023) |
GnomAD
Source:
dbNSFP
Source: