DPP9-AS1
Basic information
Region (hg38): 19:4679282-4695017
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (9 variants)
- Hatipoglu immunodeficiency syndrome (1 variants)
- not provided (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the DPP9-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 | 11 | |||||
Total | 1 | 0 | 9 | 1 | 0 |
Variants in DPP9-AS1
This is a list of pathogenic ClinVar variants found in the DPP9-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 |
---|---|---|---|---|
19-4679870-G-A | Hatipoglu immunodeficiency syndrome | Pathogenic (Apr 25, 2023) | ||
19-4679927-G-A | not specified | Uncertain significance (Feb 16, 2023) | ||
19-4682745-C-T | not specified | Uncertain significance (May 01, 2022) | ||
19-4682766-C-T | not specified | Uncertain significance (Apr 11, 2023) | ||
19-4682811-C-T | not specified | Uncertain significance (Jul 12, 2023) | ||
19-4683588-G-T | not specified | Uncertain significance (Jul 05, 2023) | ||
19-4684663-C-T | Susceptibility to severe COVID-19 | Likely pathogenic (Jul 22, 2024) | ||
19-4684722-C-T | not specified | Uncertain significance (Aug 17, 2021) | ||
19-4684770-A-G | Likely benign (Dec 31, 2019) | |||
19-4685634-C-T | not specified | Uncertain significance (Dec 18, 2023) | ||
19-4685667-T-C | not specified | Uncertain significance (Mar 25, 2024) | ||
19-4685682-C-T | not specified | Uncertain significance (May 26, 2024) | ||
19-4685712-G-A | not specified | Uncertain significance (Mar 31, 2023) | ||
19-4685724-G-A | not specified | Uncertain significance (Aug 17, 2022) | ||
19-4685765-G-A | not specified | Uncertain significance (Sep 14, 2023) | ||
19-4688787-G-T | not specified | Uncertain significance (Jun 22, 2023) | ||
19-4688808-C-T | not specified | Uncertain significance (Aug 12, 2022) | ||
19-4688812-G-T | not specified | Uncertain significance (Apr 23, 2024) | ||
19-4688818-G-T | Benign (Aug 14, 2018) | |||
19-4688838-G-A | not specified | Uncertain significance (Oct 05, 2023) | ||
19-4688841-C-T | not specified | Uncertain significance (May 20, 2024) | ||
19-4688859-C-T | not specified | Uncertain significance (Dec 27, 2023) | ||
19-4689578-T-C | not specified | Uncertain significance (Jul 20, 2022) | ||
19-4689587-T-A | not specified | Uncertain significance (Feb 07, 2023) | ||
19-4689613-C-T | not specified | Uncertain significance (Oct 02, 2023) |
GnomAD
Source:
dbNSFP
Source: